Torrioli MG, Vernacotola S, Setini C, Bevilacqua F, Martinelli D, Snape M, Hutchison JA, Di Raimo
FR, Tabolacci E, Neri G.
2010. Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys.
Am J Med Genet Part A 152A:1420–1427.
Bizzarro A, Guglielmi V, Lomastro R, Valenza A, Lauria A, Marra C, Silveri MC, Tiziano FD, Brahe
C, Masullo C.
BuChE K variant is decreased in Alzheimer's disease not in fronto-temporal dementia.
J Neural Transm. 2010 Mar;117(3):377-83. PubMed PMID: 20058037.
Pomponi MG, Pietrobono R, Neri C, Chiurazzi P, Neri G.
Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a
premutation carrier mother.
Am J Med Genet A. 2010 Feb;152A(2):409-12. PubMed PMID: 20082462.
Valenza A, Bizzarro A, Marra C, Lauria A, Guglielmi V, Rossi C, Tiziano FD, Brahe C, Masullo C.
The APOE-491 A/T promoter polymorphism effect on cognitive profile of Alzheimer's patients.
Neurosci Lett. 2010 Mar 26;472(3):199-203. Epub 2010 Feb 10. PubMed PMID: 20152880.
Galasso C, Lo-Castro A, El-Malhany N, Zollino M, Murdolo M, Orteschi D, Manca, Bitti ML,
Curatolo P.
Mild Wolf-Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without
seizures.
Am J Med Genet A. 2010 Jan;152A(1):258-61. PubMed PMID: 20014124.
Zollino M, Orteschi D, Neri G.
Phenotypic map in ring 14 syndrome.
Am J Med Genet A. 2010 Jan;152A(1):237. PubMed PMID: 20034092.
Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G,
Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH,
McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker
M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR,
Hagerman RJ, Packer RJ, Melese T.
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to
bench and back.
Am J Med Genet A. 2010 Jan;152A(1):4-24. PubMed PMID: 20014119.
Zannoni GF, Vellone VG, Cordisco EL, Sangiorgi E, Grimaldi ME, Neri C, Nanni L, Neri G.
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic
individual with ambiguous genitalia.
Int J Gynecol Pathol. 2010 Jan;29(1):33-8. PubMed PMID: 19952940.
Luigetti M, Madia F, Conte A, Marangi G, Zollino M, Del Grande A, Dileone M, Tonali PA,
Sabatelli M.
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.
Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):479-82. PubMed PMID: 19922144.
Mannelli M, Castellano M, Schiavi F, Filetti S, Giacchè M, Mori L, Pignataro V, Bernini G, Giachè
V, Bacca A, Biondi B, Corona G, Di Trapani G, Grossrubatscher E, Reimondo G, Arnaldi G,
Giacchetti G, Veglio F, Loli P, Colao A, Ambrosio MR, Terzolo M, Letizia C, Ercolino T, Opocher
G; Italian Pheochromocytoma/Paraganglioma Network.
Clinically guided genetic screening in a large cohort of italian patients with
pheochromocytomas and/or functional or nonfunctional paragangliomas.
J Clin Endocrinol Metab. 2009 May;94(5):1541-7. Epub 2009 Feb 17. PubMed PMID: 19223516.
Luigetti M, Conte A, Madia F, Marangi G, Zollino M, Mancuso I, Dileone M, Del Grande A, Di
Lazzaro V, Tonali PA, Sabatelli M.
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor
neuron amyotrophic lateral sclerosis.
Neurol Sci. 2009 Dec;30(6):517-20. Epub 2009 Aug 15. PubMed PMID: 19685200.
Fusco F, Paciolla M, Pescatore A, Lioi MB, Ayuso C, Faravelli F, Gentile M, Zollino M, D'Urso M,
Miano MG, Ursini MV.
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma
exon4_10 deletion in families with Incontinentia Pigmenti.
Hum Mutat. 2009 Sep;30(9):1284-91. PubMed PMID: 19603533.
Dickmann A, Parrilla R, Salerni A, Savino G, Vasta I, Zollino M, Petroni S, Zampino G.
Ocular manifestations in Wolf-Hirschhorn syndrome.
J AAPOS. 2009 Jun;13(3):264-7. PubMed PMID: 19541266.
Veredice C, Bianco F, Contaldo I, Orteschi D, Stefanini MC, Battaglia D, Lettori D, Guzzetta F,
Zollino M.
Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case.
Epilepsia. 2009 Apr 19. [Epub ahead of print] PubMed PMID: 19486360.
Orrico A, Zollino M, Galli L, Buoni S, Marangi G, Sorrentino V.
Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.
Am J Med Genet A. 2009 May;149A(5):1033-5. PubMed PMID: 19396834.
Benussi DG, Costa P, Zollino M, Murdolo M, Petix V, Carrozzi M, Pecile V.
Trisomy 12p and monosomy 4p: phenotype-genotype correlation.
Genet Test Mol Biomarkers. 2009 Apr;13(2):199-204. PubMed PMID: 19378504.
Terracciano A, Casali C, Grieco GS, Orteschi D, Di Giandomenico S, Seminara L, Di Fabio R,
Carrozzo R, Simonati A, Stevanin G, Zollino M, Santorelli FM.
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
Neurogenetics. 2009 Apr;10(2):151-5. Epub 2008 Nov 20. PubMed PMID: 19031088.
Chiaretti A, Leoni C, Barone G, Genovese O, Brahe C, Mariotti P, Conti G.
Increased levels of glial cell-derived neurotrophic factor in CSF of infants with SMA.
Pediatr Neurol. 2009 Sep;41(3):195-9. PubMed PMID: 19664536.
Bizzarro A, Seripa D, Acciarri A, Matera MG, Pilotto A, Tiziano FD, Brahe C, Masullo C.
The complex interaction between APOE promoter and AD: an Italian case-control study.
Eur J Hum Genet. 2009 Jul;17(7):938-45. Epub 2009 Jan 28. PubMed PMID: 19172988.
Neri G, Opitz JM.
Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery.
Am J Med Genet A. 2009 Dec;149A(12):2647-54. Review. PubMed PMID: 19921741.
Gurrieri F, Neri G.
Defective oxytocin function: a clue to understanding the cause of autism? BMC Med.
2009 Oct 22;7:63. PubMed PMID: 19845973; PubMed Central PMCID: PMC2770459.
Neri G, Di Raimo FR.
Long time no see: the Type and Contre-type concept.
Eur J Hum Genet. 2010 Feb;18(2):135-6. Epub 2009 Oct 21. PubMed PMID: 19844257.
Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G.
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the
centromeric imprinted domain of the BWS locus.
J Med Genet. 2009 Oct 20. [Epub ahead of print] PubMed PMID: 19843502.
Graham JM Jr, Kramer N, Bejjani BA, Thiel CT, Carta C, Neri G, Tartaglia M, Zenker M.
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.
Am J Med Genet A. 2009 Oct;149A(10):2122-8. PubMed PMID: 19760651; PubMed Central
PMCID: PMC2768228.
Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F, Schwartz CE.
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is
associated with autistic disorder.
Autism Res. 2009 Aug;2(4):232-6. PubMed PMID: 19681062.
Sabatelli M, Eusebi F, Al-Chalabi A, Conte A, Madia F, Luigetti M, Mancuso I, Limatola C, Trettel
F, Sobrero F, Di Angelantonio S, Grassi F, Di Castro A, Moriconi C, Fucile S, Lattante S, Marangi G,
Murdolo M, Orteschi D, Del Grande A, Tonali P, Neri G, Zollino M.
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function
are associated with sporadic amyotrophic lateral sclerosis.
Hum Mol Genet. 2009 Oct 15;18(20):3997-4006. Epub 2009 Jul 23. PubMed PMID: 19628475.
Tiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D'Amico A,
Ghezzo A, Bertini E, Mercuri E, Neri G, Brahe C.
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.
Eur J Hum Genet. 2010 Jan;18(1):52-8. Epub . PubMed PMID: 19603064.
Saulnier N, Lattanzi W, Puglisi MA, Pani G, Barba M, Piscaglia AC, Giachelia M, Alfieri S, Neri G,
Gasbarrini G, Gasbarrini A.
Mesenchymal stromal cells multipotency and plasticity: induction toward the hepatic lineage.
Eur Rev Med Pharmacol Sci. 2009 Mar;13 Suppl 1:71-8. PubMed PMID: 19530515.
Ootani A, Li X, Sangiorgi E, Ho QT, Ueno H, Toda S, Sugihara H, Fujimoto K, Weissman IL,
Capecchi MR, Kuo CJ.
Sustained in vitro intestinal epithelial culture within a Wnt-dependent stem cell niche.
Nat Med. 2009 Jun;15(6):701-6. Epub 2009 Apr 27. PubMed PMID: 19398967.
Sangiorgi E, Capecchi MR.
Bmi1 lineage tracing identifies a self-renewing pancreatic acinar cell subpopulation capable of
maintaining pancreatic organ homeostasis.
Proc Natl Acad Sci U S A. 2009 Apr 28;106(17):7101-6. Epub 2009 Apr 16. PubMed PMID:
19372370; PubMed Central PMCID: PMC2678421.
Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A,
Neri G.
The ring 14 syndrome: clinical and molecular definition.
Am J Med Genet A. 2009 Jun;149A(6):1116-24. PubMed PMID: 19441122.
Castagnola M, Messana I, Inzitari R, Fanali C, Cabras T, Morelli A, Pecoraro AM, Neri G, Torrioli
MG, Gurrieri F.
Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism
spectrum disorders.
J Proteome Res. 2008 Dec;7(12):5327-32. PubMed PMID: 19367726.
Neri G, Moscarda M.
Overgrowth syndromes: a classification.
Endocr Dev. 2009;14:53-60. Review. PubMed PMID: 19293574.
Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E,
Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D,
Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F,
Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M,
Bernasconi S, Wakamatsu N, Neri G.
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and
review of the literature.
Am J Med Genet A. 2009 Mar;149A(3):417-26. Review. PubMed PMID: 19215041.
Piccione M, Piro E, Pomponi MG, Matina F, Pietrobono R, Candela E, Gabriele B, Neri G, Corsello
G.
A premature infant with Costello syndrome due to a rare G13C HRAS mutation.
Am J Med Genet A. 2009 Mar;149A(3):487-9. PubMed PMID: 19213030.
Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE,
Neri G, Nigro V.
A missense mutation in CASK causes FG syndrome in an Italian family.
Am J Hum Genet. 2009 Feb;84(2):162-77. Epub 2009 Feb 5. PubMed PMID: 19200522; PubMed
Central PMCID: PMC2668001.
Lucci-Cordisco E, Neri G.
Silent beginning: early silencing of the MED1/MBD4 gene in colorectal tumorigenesis.
Cancer Biol Ther. 2009 Jan;8(2):192-3. Epub 2009 Feb 15. PubMed PMID: 19182514.
Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G.
Elements of morphology: standard terminology for the head and face.
Am J Med Genet A. 2009 Jan;149A(1):6-28. PubMed PMID: 19125436; PubMed Central PMCID:
PMC2778021.
Neri G, Allanson J, Kavamura MI.
No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous
syndromes.
J Med Genet. 2008 Dec;45(12):832. PubMed PMID: 19047498.
Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G.
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype
correlation analysis of 80 patients and literature review.
Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. Review. PubMed PMID:
18932124.
Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach
A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante
L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V.
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous
syndrome.
Eur J Hum Genet. 2009 Apr;17(4):420-5. Epub 2008 Oct 15. PubMed PMID: 18854871.
Casalbore P, Budoni M, Ricci-Vitiani L, Cenciarelli C, Petrucci G, Milazzo L, Montano N, Tabolacci
E, Maira G, Larocca LM, Pallini R.
Tumorigenic potential of olfactory bulb-derived human adult neural stem cells associates with
activation of TERT and NOTCH1.
PLoS One. 2009;4(2):e4434. Epub 2009 Feb 11. PubMed PMID: 19209236; PubMed Central
PMCID: PMC2637538.
Gurrieri F, Accadia M.
Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes.
Endocr Dev. 2009;14:20-8. Epub 2009 Feb 27. Review. PubMed PMID: 19293572.
Biesecker LG, Aase JM, Clericuzio C, Gurrieri F, Temple IK, Toriello H.
Elements of morphology: standard terminology for the hands and feet.
Am J Med Genet A. 2009 Jan;149A(1):93-127. PubMed PMID: 19125433.
Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L,
Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE.
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.
J Med Genet. 2009 Jan;46(1):9-13. Epub 2008 Sep 19. PubMed PMID: 18805826.
Piccione M, Maresi E, Zollino M, Sanfilippo C, Seminara L, Neri G, Corsello G.
Sex reversal from functional disomy of Xp: prenatal and post-mortem findings.
Am J Med Genet A. 2008 Oct 15;146A(20):2681-7. PubMed PMID: 18798322.
Sangiorgi E, Shuhua Z, Capecchi MR.
In vivo evaluation of PhiC31 recombinase activity using a self-excision cassette.
Nucleic Acids Res. 2008 Nov;36(20):e134. Epub 2008 Oct 1. PubMed PMID: 18829714; PubMed
Central PMCID: PMC2582622.
Sangiorgi E, Capecchi MR.
Bmi1 is expressed in vivo in intestinal stem cells.
Nat Genet. 2008 Jul;40(7):915-20. Epub 2008 Jun 8. PubMed PMID: 18536716.
Mancini A, Zollino M, Leone E, Grande G, Festa R, Lecce R, Pontecorvi A, Neri G.
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age.
Fertil Steril. 2008 Nov;90(5):2011.e17-21. Epub 2008 Sep 7. PubMed PMID: 18778815.
Marangi G, Leuzzi V, Orteschi D, Grimaldi ME, Lecce R, Neri G, Zollino M.
Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive
phenotype.
Am J Med Genet A. 2008 Sep 15;146A(18):2313-7. PubMed PMID: 18688873.
South ST, Hannes F, Fisch GS, Vermeesch JR, Zollino M.
Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn
syndrome critical regions on 4p16.3.
Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):270-4. PubMed PMID: 18932125.
Luigetti M, Madia F, Conte A, Marangi G, Zollino M, Del Grande A, Dileone M, Attilio Tonali P,
Sabatelli M.
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.
Amyotroph Lateral Scler. 2008 Jul 31:1-4. [Epub ahead of print] PubMed PMID: 18671141.
Luigetti M, Conte A, Madia F, Mereu ML, Zollino M, Marangi G, Pomponi MG, Liberatore G,
Tonali PA, Sabatelli M.
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.
Muscle Nerve. 2008 Aug;38(2):1060-4. PubMed PMID: 18642376.
Sabatelli M, Madia F, Conte A, Luigetti M, Zollino M, Mancuso I, Lo Monaco M, Lippi G, Tonali P.
Natural history of young-adult amyotrophic lateral sclerosis.
Neurology. 2008 Sep 16;71(12):876-81. Epub 2008 Jul 2. PubMed PMID: 18596241.
Laurenti L, Tarnani M, Chiusolo P, La Torre G, Garzia M, Zollino M, Zini G, Balducci M, Leone G,
Sica S.
Low incidence of secondary neoplasia after autotransplantation for lymphoproliferative
disease: the role of pre-transplant therapy.
Clin Transplant. 2008 Mar-Apr;22(2):191-9. PubMed PMID: 18339139.
van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M,
Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM,
Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N,
Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB.
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical
region for corpus callosum agenesis/hypogenesis.
J Med Genet. 2008 Jun;45(6):346-54. Epub 2008 Jan 4. PubMed PMID: 18178631.
Zollino M, Murdolo M, Neri G.
The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in
Wolf-Hirschhorn syndrome.
J Med Genet. 2008 Aug;45(8):544. PubMed PMID: 18676804.
Picciotti PM, Pietrobono R, Neri G, Paludetti G, Fetoni AR, Cianfrone F, Pomponi MG.
Correlation between GJB2 mutations and audiological deficits: personal experience.
Eur Arch Otorhinolaryngol. 2009 Apr;266(4):489-94. Epub 2008 Jul 31. PubMed PMID: 18668259.
Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini
L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas
P.
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal
anophthalmia.
Hum Mutat. 2009 May;30(5):E673-81. PubMed PMID: 19309693.
Tabolacci E, Moscato U, Zalfa F, Bagni C, Chiurazzi P, Neri G.
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full
mutations.
Eur J Hum Genet. 2008 Dec;16(12):1487-98. Epub 2008 Jul 16. PubMed PMID: 18628788.
Tabolacci E, De Pascalis I, Accadia M, Terracciano A, Moscato U, Chiurazzi P, Neri G.
Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone
modifications but not DNA demethylation.
Pharmacogenet Genomics. 2008 Aug;18(8):738-41. PubMed PMID: 18622267.
Torrioli MG, Vernacotola S, Peruzzi L, Tabolacci E, Mila M, Militerni R, Musumeci S, Ramos FJ,
Frontera M, Sorge G, Marzullo E, Romeo G, Vallee L, Veneselli E, Cocchi E, Garbarino E, Moscato
U, Chiurazzi P, D'Iddio S, Calvani M, Neri G.
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the
attention deficit hyperactivity disorder in fragile X syndrome boys.
Am J Med Genet A. 2008 Apr 1;146(7):803-12. PubMed PMID: 18286595.
Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L,
Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A.
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann
syndrome and Wilms' tumour.
Hum Mol Genet. 2008 May 15;17(10):1427-35. Epub 2008 Feb 1. PubMed PMID: 18245780.
Chiurazzi P, Schwartz CE, Gecz J, Neri G.
XLMR genes: update 2007.
Eur J Hum Genet. 2008 Apr;16(4):422-34.
Epub 2008 Jan 16. Review. PubMed PMID: 18197188.
Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM,
Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Giustina ED, Amarri S, Banchini G,
Dobyns WB, Neri G.
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus
(MPPH): report of a new case.
Neuropediatrics. 2007 Aug;38(4):200-3. PubMed PMID: 18058629.
Miano MG, Laperuta C, Chiurazzi P, D'Urso M, Ursini MV.
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA
disorders: case report.
BMC Med Genet. 2007 Apr 11;8:18. PubMed PMID: 17428316; PubMed Central PMCID:
PMC1859987.
Allanson J, Kavamura I, Neri G, Noonan J, Poss A, Kerr B.
Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling
pathway.
Eur J Med Genet. 2007 Nov-Dec;50(6):482-3. Epub 2007 Sep 29. PubMed PMID: 17974516.
Tabolacci E, Pomponi MG, Pietrobono R, Chiurazzi P, Neri G.
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal
boy.
Eur J Hum Genet. 2008 Feb;16(2):209-14. Epub 2007 Oct 31. PubMed PMID: 17971832.
Gurrieri F, Franco B, Toriello H, Neri G.
Oral-facial-digital syndromes: review and diagnostic guidelines.
Am J Med Genet A. 2007 Dec 15;143A(24):3314-23. Review. PubMed PMID: 17963220.
Angelozzi C, Borgo F, Tiziano FD, Martella A, Neri G, Brahe C.
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells.
J Med Genet. 2008 Jan;45(1):29-31. Epub 2007 Oct 11. PubMed PMID: 17932121.
Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, Giovannucci-Uzielli ML,
Pessagno A, Lucci-Cordisco E, Pinto AM, Salviati L, Selicorni A, Tenconi R, Neri G, Larizza L.
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and
mapping of somatic and germ-line breakpoints.
Genomics. 2007 Nov;90(5):567-73. Epub 2007 Sep 12. PubMed PMID: 17855048.
Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G,
Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L,
Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G.
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory
receptor gene clusters nor by inversion polymorphism on 4p16. Hum Genet.
2007 Dec;122(5):423-30. Epub 2007 Aug 4. Erratum in: Hum Genet. 2008 Apr;123(3):319. PubMed
PMID: 17676343.
Vitte J, Fassier C, Tiziano FD, Dalard C, Soave S, Roblot N, Brahe C, Saugier-Veber P, Bonnefont
JP, Melki J.
Refined characterization of the expression and stability of the SMN gene products.
Am J Pathol. 2007 Oct;171(4):1269-80. Epub 2007 Aug 23. PubMed PMID: 17717146; PubMed
Central PMCID: PMC1988876.
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E,
Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R,
Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri
S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F,
Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O.
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome
rearrangements: a study of 59 patients.
J Med Genet. 2007 Dec;44(12):750-62. Epub 2007 Aug 31. PubMed PMID: 17766364.
Righini A, Ciosci R, Selicorni A, Bianchini E, Parazzini C, Zollino M, Lodi M, Triulzi F.
Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome.
Neuropediatrics. 2007 Feb;38(1):25-8. PubMed PMID: 17607600.
Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M.
Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial
recurrence in microdeletion syndromes.
Am J Med Genet A. 2007 Jun 1;143A(11):1169-73. PubMed PMID: 17480006.
Rodríguez L, Zollino M, Mansilla E, Martínez-Fernández ML, Pérez P, Murdolo M, Martínez-Frías
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The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.
Am J Med Genet A. 2007 May 1;143A(9):995-8. PubMed PMID: 17431893.
Bussu F, Tiziano FD, Giorgio A, Pinto AM, De Corso E, Angelozzi C, Brahe C, Paludetti G.
Argl6gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor
for nasal polyposis.
Am J Rhinol. 2007 May-Jun;21(3):378-82. PubMed PMID: 17621827.
Tiziano FD, Bertini E, Messina S, Angelozzi C, Pane M, D'Amico A, Alfieri P, Fiori S, Battini R,
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The Hammersmith functional score correlates with the SMN2 copy number: a multicentric
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Neuromuscul Disord. 2007 May;17(5):400-3. Epub 2007 Apr 12. PubMed PMID: 17433677.
Mercuri E, Bertini E, Messina S, Solari A, D'Amico A, Angelozzi C, Battini R, Berardinelli A, Boffi
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Pelliccioni M, Pini A, Tiziano FD, Villanova M, Vita G, Brahe C.
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular
atrophy.
Neurology. 2007 Jan 2;68(1):51-5. Epub 2006 Nov 2. PubMed PMID: 17082463.
Laperuta C, Spizzichino L, D'Adamo P, Monfregola J, Maiorino A, D'Eustacchio A, Ventruto V, Neri
G, D'Urso M, Chiurazzi P, Ursini MV, Miano MG.
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine
expansions.
BMC Med Genet. 2007 May 4;8:25. PubMed PMID: 17480217; PubMed Central PMCID:
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Zalfa F, Eleuteri B, Dickson KS, Mercaldo V, De Rubeis S, di Penta A, Tabolacci E, Chiurazzi P,
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A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA
stability.
Nat Neurosci. 2007 May;10(5):578-87. Epub 2007 Apr 8. PubMed PMID: 17417632; PubMed
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Ferrentino R, Bassi MT, Chitayat D, Tabolacci E, Meroni G.
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine
novel mutations identified.
Hum Mutat. 2007 Feb;28(2):206-7. PubMed PMID: 17221865.
Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N,
Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi
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Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome:
overlapping clinical manifestations with Costello syndrome.
Am J Med Genet A. 2007 Apr 15;143A(8):799-807. PubMed PMID: 17366577.
Scardocci A, Guidi F, D'Alo' F, Gumiero D, Fabiani E, Diruscio A, Martini M, Larocca LM, Zollino
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Reduced BRCA1 expression due to promoter hypermethylation in therapy-related acute
myeloid leukaemia.
Br J Cancer. 2006 Oct 23;95(8):1108-13. PubMed PMID: 17047656; PubMed Central PMCID:
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Lucci-Cordisco E, Boccuto L, Neri G, Genuardi M.
The use of microsatellite instability, immunohistochemistry and other variables in determining
the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.
Cancer Biomark. 2006;2(1-2):11-27. Review. PubMed PMID: 17192056.
Modoni A, Contarino MF, Bentivoglio AR, Tabolacci E, Santoro M, Calcagni ML, Tonali PA, Neri
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Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients.
Mov Disord. 2007 Feb 15;22(3):324-7. PubMed PMID: 17149720.
Mercuri E, Bertini E, Messina S, Solari A, D'Amico A, Angelozzi C, Battini R, Berardinelli A, Boffi
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Pelliccioni M, Pini A, Tiziano FD, Villanova M, Vita G, Brahe C.
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular
atrophy.
Neurology. 2007 Jan 2;68(1):51-5. Epub 2006 Nov 2. PubMed PMID: 17082463.
Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A,
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A, Gelb BD, Neri G, Tartaglia M.
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense
changes in Costello syndrome.
Hum Mutat. 2007 Mar;28(3):265-72. PubMed PMID: 17054105.
Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano
L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L.
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
BMC Med Genet. 2006 Oct 19;7:77. PubMed PMID: 17052327; PubMed Central PMCID:
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Neri G.
The Helena syndromes.
Am J Med Genet A. 2006 Oct 1;140(19):2007-12. Review. PubMed PMID: 16906537.
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G.
The cardiofaciocutaneous syndrome.
J Med Genet. 2006 Nov;43(11):833-42. Epub 2006 Jul 6. Review. PubMed PMID: 16825433;
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Lyle R, Radhakrishna U, Blouin JL, Gagos S, Everman DB, Gehrig C, Delozier-Blanchet C, Solanki
JV, Patel UC, Nath SK, Gurrieri F, Neri G, Schwartz CE, Antonarakis SE.
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic
methods and gene expression from the region.
Am J Med Genet A. 2006 Jul 1;140(13):1384-95. PubMed PMID: 16691619.
Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, Poot M, Rubin CD, Chen DF, Yang CC, Juch H,
Dorn T, Spiegel R, Oral EA, Abid M, Battisti C, Lucci-Cordisco E, Neri G, Steed EH, Kidd A, Isley
W, Showalter D, Vittone JL, Konstantinow A, Ring J, Meyer P, Wenger SL, von Herbay A, Wollina
U, Schuelke M, Huizenga CR, Leistritz DF, Martin GM, Mian IS, Oshima J.
The spectrum of WRN mutations in Werner syndrome patients.
Hum Mutat. 2006 Jun;27(6):558-67. PubMed PMID: 16673358; PubMed Central PMCID:
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Martinelli S, Carta C, Flex E, Binni F, Cordisco EL, Moretti S, Puxeddu E, Tonacchera M, Pinchera
A, McDowell HP, Dominici C, Rosolen A, Di Rocco C, Riccardi R, Celli P, Picardo M, Genuardi M,
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Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
Cancer Genet Cytogenet. 2006 Apr 15;166(2):124-9. PubMed PMID: 16631468.
Marroni F, Pastrello C, Benatti P, Torrini M, Barana D, Cordisco EL, Viel A, Mareni C, Oliani C,
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A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history
and tumor microsatellite instability.
Clin Genet. 2006 Mar;69(3):254-62. PubMed PMID: 16542391.
De Bonis ML, Cerase A, Matarazzo MR, Ferraro M, Strazzullo M, Hansen RS, Chiurazzi P, Neri G,
D'Esposito M.
Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is
independent from DNA methylation and associated to multiple layers of epigenetic
modifications.
Hum Mol Genet. 2006 Apr 1;15(7):1123-32. Epub 2006 Feb 24. PubMed PMID: 16500999.
Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, Verloes A, Okamoto N, Hennekam RC, GillessenKaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D,
Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y.
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Nat Genet. 2006 Mar;38(3):294-6. Epub 2006 Feb 12. PubMed PMID: 16474404.
Tabolacci E, Pomponi MG, Pietrobono R, Terracciano A, Chiurazzi P, Neri G.
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in
the MRX21 family.
Am J Med Genet A. 2006 Mar 1;140(5):482-7. PubMed PMID: 16470793.
Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F,
Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE.
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in
syndromic and non-syndromic split-hand/foot malformation.
Am J Med Genet A. 2006 Jul 1;140(13):1375-83. PubMed PMID: 16761290.
Trecarichi EM, Tumbarello M, de Gaetano Donati K, Tamburrini E, Cauda R, Brahe C, Tiziano FD.
Partial protective effect of CCR5-Delta 32 heterozygosity in a cohort of heterosexual Italian
HIV-1 exposed uninfected individuals.
AIDS Res Ther. 2006 Sep 25;3:22. PubMed PMID: 16999868; PubMed Central PMCID:
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Giannini A, Pinto AM, Rossetti G, Prandi E, Tiziano D, Brahe C, Nardocci N.
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.
Intensive Care Med. 2006 Nov;32(11):1851-5. Epub 2006 Sep 9. Review. PubMed PMID: 16964485.
Acciarri A, Masullo C, Bizzarro A, Valenza A, Quaranta D, Marra C, Tiziano FD, Brahe C, Seripa D,
Matera MG, Fazio VM, Gainotti G, Daniele A.
Apoe epsilon2-epsilon4 genotype is a possible risk factor for primary progressive aphasia.
Ann Neurol. 2006 Feb;59(2):436-7. PubMed PMID: 16437577.
Lecce R, Murdolo M, Gelli G, Steindl K, Coppola L, Romano A, Cupelli E, Neri G, Zollino M.
The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies
of a small DNA segment mapping within 9p12.
Hum Genet. 2006 Feb;118(6):760-6. Epub 2005 Dec 2. PubMed PMID: 16323011.
Finocchi A, Palma P, Rossi P, Opitz JM, Neri G.
Transitory hypogammaglobulinemia of infancy in FG syndrome.
Am J Med Genet A. 2005 Nov 1;138(4):396-8. PubMed PMID: 16158434.
Rodríguez L, Zollino M, Climent S, Mansilla E, López-Grondona F, Martínez-Fernández ML,
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The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.
Am J Med Genet A. 2005 Jul 15;136(2):175-8. PubMed PMID: 15948183.
De Rosa G, Pardeo M, Bria S, Caresta E, Vasta I, Zampino G, Zollino M, Zuppa AA, Piastra M.
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q
monosomy.
Eur J Pediatr. 2005 Apr;164(4):255-6. Epub 2005 Jan 22. PubMed PMID: 15666158.
Lombardo F, Chiurazzi P, Hörtnagel K, Arrigo T, Valenzise M, Meitinger T, Messina MF, Salzano G,
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Clinical picture, evolution and peculiar molecular findings in a very large pedigree with
Wolfram syndrome.
J Pediatr Endocrinol Metab. 2005 Dec;18(12):1391-7. PubMed PMID: 16459465.
Rodríguez-Criado G, Magano L, Segovia M, Gurrieri F, Neri G, González-Meneses A, Gómez de
Terreros I, Valdéz R, Gracia R, Lapunzina P.
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.
Am J Med Genet A. 2005 Oct 15;138A(3):272-7. PubMed PMID: 16158429.
Terracciano A, Chiurazzi P, Neri G.
Fragile X syndrome.
Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):32-7. Review. PubMed PMID:
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Tabolacci E, Zollino M, Lecce R, Sangiorgi E, Gurrieri F, Leuzzi V, Opitz JM, Neri G.
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser
syndrome.
Clin Dysmorphol. 2005 Jul;14(3):127-32. PubMed PMID: 15930901.
Bizzarro A, Marra C, Acciarri A, Valenza A, Tiziano FD, Brahe C, Masullo C.
Apolipoprotein E epsilon4 allele differentiates the clinical response to donepezil in Alzheimer's
disease.
Dement Geriatr Cogn Disord. 2005;20(4):254-61. Epub 2005 Aug 9. PubMed PMID: 16103669.
Garavelli L, Cerruti-Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier
C, Zollino M, Banchini G, Longo N, Mowat D, Neri G, Bernasconi S.
Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger
homeo box 1B gene (ZFHX1B).Report of three Italian cases with hypospadias and review.
Horm Res. 2005;63(4):187-92. Epub 2005 May 20. PubMed PMID: 15908750.
Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero
GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L,
Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F.
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
Am J Med Genet A. 2005 Apr 30;134(3):247-53. PubMed PMID: 15742365.
Tabolacci E, Pietrobono R, Moscato U, Oostra BA, Chiurazzi P, Neri G.
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after
reactivating pharmacological treatments.
Eur J Hum Genet. 2005 May;13(5):641-8. PubMed PMID: 15741991.
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ,
Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA,
Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB,
Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E,
McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon
RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM,
Brueton L, Black GC, Biesecker LG.
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes:
robust phenotype prediction from the type and position of GLI3 mutations.
Am J Hum Genet. 2005 Apr;76(4):609-22. Epub 2005 Feb 28. PubMed PMID: 15739154; PubMed
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Lucci-Cordisco E, Zollino M, Baglioni S, Mancuso I, Lecce R, Gurrieri F, Crucitti A, Papi L, Neri G,
Genuardi M.
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis
colorectal cancer.
Clin Genet. 2005 Feb;67(2):178-82. PubMed PMID: 15679831.
Russo L, Mariotti P, Sangiorgi E, Giordano T, Ricci I, Lupi F, Chiera R, Guzzetta F, Neri G, Gurrieri
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A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing
three GABA-A receptor genes.
Am J Hum Genet. 2005 Feb;76(2):327-33. Epub 2004 Dec 7. PubMed PMID: 15586324; PubMed
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Pietrobono R, Tabolacci E, Zalfa F, Zito I, Terracciano A, Moscato U, Bagni C, Oostra B, Chiurazzi
P, Neri G.
Molecular dissection of the events leading to inactivation of the FMR1 gene.
Hum Mol Genet. 2005 Jan 15;14(2):267-77. Epub 2004 Nov 24. PubMed PMID: 15563507.
Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F, Moscato U, Bertini E, Mercuri E,
Neri G.
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.
Eur J Hum Genet. 2005 Feb;13(2):256-9. PubMed PMID: 15523494.
Probst FJ, Hedera P, Sclafani AM, Pomponi MG, Neri G, Tyson J, Douglas JA, Petty EM, Martin
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Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental
retardation syndrome.
Am J Med Genet A. 2004 Dec 1;131(2):209-12. Erratum in: Am J Med Genet A. 2005 Apr 30;134
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Chiurazzi P, Bajer J, Tabolacci E, Pomponi MG, Lecce R, Zollino M, Neri G.
Assisted reproductive technology and congenital overgrowth: some speculations on a case of
Pallister-Killian syndrome.
Am J Med Genet A. 2004 Oct 15;130A(3):315-6. PubMed PMID: 15378537.
Leuzzi V, Di Sabato ML, Zollino M, Montanaro ML, Seri S.
Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.
Neurology. 2004 Nov 23;63(10):1968-70. PubMed PMID: 15557528.
Marra C, Bizzarro A, Daniele A, De Luca L, Ferraccioli M, Valenza A, Brahe C, Tiziano FD,
Gainotti G, Masullo C.
Apolipoprotein E epsilon4 allele differently affects the patterns of neuropsychological
presentation in early- and late-onset Alzheimer's disease patients.
Dement Geriatr Cogn Disord. 2004;18(2):125-31. Epub 2004 Jun 18. PubMed PMID: 15211066.
Gitto E, Reiter RJ, Cordaro SP, La Rosa M, Chiurazzi P, Trimarchi G, Gitto P, Calabrò MP, Barberi I.
Oxidative and inflammatory parameters in respiratory distress syndrome of preterm
newborns: beneficial effects of melatonin.
Am J Perinatol. 2004 May;21(4):209-16. PubMed PMID: 15168319.
Mercuri E, Bertini E, Messina S, Pelliccioni M, D'Amico A, Colitto F, Mirabella M, Tiziano FD,
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Pilot trial of phenylbutyrate in spinal muscular atrophy.
Neuromuscul Disord. 2004 Feb;14(2):130-5. PubMed PMID: 14733959.
Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R,
Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi
P, Dalprà L, Genuardi M, Dagna-Bricarelli F, Calzolari E.
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an
Italian multicentric prenatal survey.
Prenat Diagn. 2004 Aug;24(8):647-52. PubMed PMID: 15305356.
Chiurazzi P, Tabolacci E, Neri G.
X-linked mental retardation (XLMR): from clinical conditions to cloned genes.
Crit Rev Clin Lab Sci. 2004;41(2):117-58. Review. PubMed PMID: 15270552.
Zollino M, Lecce R, Selicorni A, Murdolo M, Mancuso I, Marangi G, Zampino G, Garavelli L,
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A double cryptic chromosome imbalance is an important factor to explain phenotypic
variability in Wolf-Hirschhorn syndrome.
Eur J Hum Genet. 2004 Oct;12(10):797-804. PubMed PMID: 15241479.
Viel A, Genuardi M, Lucci-Cordisco E, Capozzi E, Rovella V, Fornasarig M, Ponz de Leòn M, Anti
M, Pedroni M, Bellacosa A, Percesepe A, Covino M, Benatti P, Del Tin L, Roncucci L, Valentini M,
Boiocchi M, Neri G.
Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic
testing based on clinical and molecular characteristics.
Community Genet. 1998;1(4):229-36. PubMed PMID: 15178966.
Garavelli L, Zanacca C, Caselli G, Banchini G, Dubourg C, David V, Odent S, Gurrieri F, Neri G.
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic
hedgehog.
Am J Med Genet A. 2004 May 15;127A(1):93-5. PubMed PMID: 15103725.
Longo I, Russo L, Meloni I, Ricci I, Ariani F, Pescucci C, Giordano CT, Canitano R, Hayek G,
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Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
Eur J Hum Genet. 2004 Aug;12(8):682-5. PubMed PMID: 15069458.
Gurrieri F, Scarano G, Garavelli L, Della Monica M, Lonardo F, Cuda D, Banchini G, Opitz JM, Neri
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Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new
syndrome.
Am J Med Genet A. 2004 Apr 15;126A(2):204-7. PubMed PMID: 15057987.
Caluseriu O, Di Gregorio C, Lucci-Cordisco E, Santarosa M, Trojan J, Brieger A, Benatti P, Pedroni
M, Colibazzi T, Bellacosa A, Neri G, Ponz de Leon M, Viel A, Genuardi M.
A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in
northern Italy with hereditary non-polyposis colorectal cancer associated with protein
elongation and instability.
J Med Genet. 2004 Mar;41(3):e34. PubMed PMID: 14985405; PubMed Central PMCID:
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Terracciano A, Pomponi MG, Marino GM, Chiurazzi P, Rinaldi MM, Dobosz M, Neri G.
Expansion to full mutation of a FMR1 intermediate allele over two generations.
Eur J Hum Genet. 2004 Apr;12(4):333-6. PubMed PMID: 14735162.
Chiurazzi P, Neri G, Oostra BA.
Understanding the biological underpinnings of fragile X syndrome.
Curr Opin Pediatr. 2003 Dec;15(6):559-66. Review. PubMed PMID: 14631199.
Nucera G, La Regina M, Diaco M, Neri G, Gasbarrini G, Manna R.
[Familial Mediterranean fever: an ancient hereditary disease].
Ann Ital Med Int. 2003 Jul-Sep;18(3):136-48. Review. Italian. Erratum in: Ann Ital Med Int. 2003
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Cifuentes-Diaz C, Frugier T, Tiziano FD, Lacène E, Roblot N, Joshi V, Moreau MH, Melki J.
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy.
J Cell Biol. 2001 Mar 5;152(5):1107-14. PubMed PMID: 11238465; PubMed Central PMCID:
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Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P,
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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S
enzyme deficiency followed by intramitochondrial iron deposits.
Nat Genet. 2001 Feb;27(2):181-6. PubMed PMID: 11175786.
Lucci-Cordisco E, Rovella V, Carrara S, Percesepe A, Pedroni M, Bellacosa A, Caluseriu O,
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Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary
nonpolyposis colorectal cancer.
Fam Cancer. 2001;1(2):93-9. PubMed PMID: 14574004.
Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, Boninsegna A, Villanova M, Bertini
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Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular
atrophy.
Eur J Hum Genet. 2004 Jan;12(1):59-65. PubMed PMID: 14560316.
Chiurazzi P, Neri G.
Reactivation of silenced genes and transcriptional therapy.
Cytogenet Genome Res. 2003;100(1-4):56-64. Review. PubMed PMID: 14526164.
Battaglia D, Zampino G, Zollino M, Mariotti P, Acquafondata C, Lettori D, Pane M, Vasta I, Neri G,
Dravet C, Guzzetta F.
Electroclinical patterns and evolution of epilepsy in the 4p- syndrome.
Epilepsia. 2003 Sep;44(9):1183-90. PubMed PMID: 12919390.
de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ,
Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, DelozierBlanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE.
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split
foot malformation 3 (SHFM3) at 10q24.
Hum Mol Genet. 2003 Aug 15;12(16):1959-71. PubMed PMID: 12913067.
Pascale E, Battiloro E, Cimino Reale G, Pietrobono R, Pomponi MG, Chiurazzi P, Nicolai R, Calvani
M, Neri G, D'Ambrosio E.
Modulation of methylation in the FMR1 promoter region after long term treatment with Lcarnitine and acetyl-L-carnitine.
J Med Genet. 2003 Jun;40(6):e76. PubMed PMID: 12807975; PubMed Central PMCID:
PMC1735504.
Kavamura MI, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne MM, Opitz JM, Neri G.
Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous
(CFC) syndrome patients.
Am J Med Genet A. 2003 Jun 1;119A(2):177-9. PubMed PMID: 12749059.
Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Buttè C, Memo L, Capovilla
G, Neri G.
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS
critical region and defining a new critical region, WHSCR-2.
Am J Hum Genet. 2003 Mar;72(3):590-7. Epub 2003 Jan 30. PubMed PMID: 12563561; PubMed
Central PMCID: PMC1180235.
Zollino M, Colosimo C, Zuffardi O, Rossi E, Tosolini A, Walsh CA, Neri G.
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with
polymicrogyria, segregating as an apparently X-linked trait.
Am J Med Genet A. 2003 Feb 15;117A(1):65-71. PubMed PMID: 12548742.
Kavamura MI, Pomponi MG, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne MM, Opitz JM,
Neri G.
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.
Eur J Hum Genet. 2003 Jan;11(1):64-8. PubMed PMID: 12529707.
Neri G, Kavamura MI, Zollino M, Opitz JM.
CFC syndrome.
Am J Med Genet A. 2003 Feb 1;116A(4):410. PubMed PMID: 12522802.
Garavelli L, Donadio A, Zanacca C, Banchini G, Della Giustina E, Bertani G, Albertini G, Del Rossi
C, Zweier C, Rauch A, Zollino M, Neri G.
Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the
gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.
Am J Med Genet A. 2003 Feb 1;116A(4):385-8. PubMed PMID: 12522797.
Gurrieri F, Kjaer KW, Sangiorgi E, Neri G.
Limb anomalies: Developmental and evolutionary aspects.
Am J Med Genet. 2002 Dec 30;115(4):231-44. Review. PubMed PMID: 12503118.
Laurenti L, Chiusolo P, Garzia MG, Zini G, Sorà F, Piccirillo N, Piccioni P, Zollino M, Leone G, Sica
S.
Periodic morphologic, cytogenetic and clonality evaluation after autologous peripheral blood
progenitor cell transplantation in patients with lymphoproliferative malignancies.
Haematologica. 2002 Jan;87(1):59-66. PubMed PMID: 11801466.
Calvani M, D'Iddio S, de Gaetano A, Mariotti P, Mosconi L, Pomponi MG, Tabolacci E, Torrioli
MG, Vernacotola S, Neri G.
[L-acetylcarnitine treatment on fragile X patients hyperactive behaviour].
Rev Neurol. 2001 Oct;33 Suppl 1:S65-70. Spanish. PubMed PMID: 12447823.
Chiurazzi P, Neri G.
[Experimental therapy: reactivation of the FMR1 gene involved in fragile X syndrome].
Rev Neurol. 2001 Oct;33 Suppl 1:S62-5. Spanish. PubMed PMID: 12447822.
Gurrieri F, Carrozzo R.
The genetics of epilepsy.
Am J Med Genet. 2001 Summer;106(2):117-8. PubMed PMID: 11579430.
Sica S, Chiusolo P, Zollino M, Sora F, Piccirillo N, Laurenti L, Reddiconto G, Leone G.
The association of severe aplastic anaemia with the Philadelphia chromosome and the bcr/abl
transcript.
Br J Haematol. 2001 Sep;114(4):961-2. PubMed PMID: 11564100.
Grimm T, Teglund S, Tackels D, Sangiorgi E, Gurrieri F, Schwartz C, Toftgård R.
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for
the split-hand/split-foot malformation type 3.
FEBS Lett. 2001 Sep 7;505(1):13-7. PubMed PMID: 11557033.
Andreassi C, Patrizi AL, Monani UR, Burghes AH, Brahe C, Eboli ML.
Expression of the survival of motor neuron (SMN) gene in primary neurons and increase in
SMN levels by activation of the N-methyl-D-aspartate glutamate receptor.
Neurogenetics. 2002 Mar;4(1):29-36. PubMed PMID: 12030329.
Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F, de Mollerat X, Fischetto R, Causio F, Clarkson
K, Stevenson RE, Schwartz CE.
Split hand/split foot malformation with hearing loss: first report of families linked to the
SHFM1 locus in 7q21.
Clin Genet. 2001 Jan;59(1):28-36. PubMed PMID: 11168022.
Shaw MA, Chiurazzi P, Romain DR, Neri G, Gécz J.
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in
FRAXF full mutation.
Eur J Hum Genet. 2002 Nov;10(11):767-72. PubMed PMID: 12404111.
Pietrobono R, Pomponi MG, Tabolacci E, Oostra B, Chiurazzi P, Neri G.
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene
in fragile X cells treated with 5-azadeoxycytidine.
Nucleic Acids Res. 2002 Jul 15;30(14):3278-85. PubMed PMID: 12136110; PubMed Central
PMCID: PMC135754.
Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M,
Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG.
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected BardetBiedl syndrome patients.
Hum Genet. 2002 Jun;110(6):561-7. Epub 2002 May 9. PubMed PMID: 12107442.
Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni
A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi
O.
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the
recurrent t(4;8)(p16;p23) translocation.
Am J Hum Genet. 2002 Aug;71(2):276-85. Epub 2002 Jun 10. PubMed PMID: 12058347; PubMed
Central PMCID: PMC379160.
Oostra BA, Chiurazzi P.
The fragile X gene and its function.
Clin Genet. 2001 Dec;60(6):399-408. Review. PubMed PMID: 11846731.
Gitto E, Karbownik M, Reiter RJ, Tan DX, Cuzzocrea S, Chiurazzi P, Cordaro S, Corona G,
Trimarchi G, Barberi I.
Effects of melatonin treatment in septic newborns.
Pediatr Res. 2001 Dec;50(6):756-60. PubMed PMID: 11726736.
Chiurazzi P, Neri G.
Pharmacological reactivation of inactive genes: the fragile X experience.
Brain Res Bull. 2001 Oct-Nov 1;56(3-4):383-7. Review. PubMed PMID: 11719276.
Petrinelli P, Elli R, Marcucci L, Tabolacci E, Barbieri C, Antonelli A.
Telomeric associations and chromosome instability in ataxia telangiectasia T cells characterized
by TCL1 expression.
Cancer Genet Cytogenet. 2001 Feb;125(1):46-51. PubMed PMID: 11297767.
Rovella V, Carrara S, Crucitti SC, Coco C, Magistrelli P, Lucci-Cordisco E, Anti M, Neri G,
Genuardi M.
Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a
clinic-based population.
Ann Oncol. 2001 Jun;12(6):813-8. PubMed PMID: 11484957.
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van
Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob
RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H,
Yates JR, Neri G, Brunner HG.
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split
foot malformation suggest a genotype-phenotype correlation.
Am J Hum Genet. 2001 Sep;69(3):481-92. Epub 2001 Jul 17. PubMed PMID: 11462173; PubMed
Central PMCID: PMC1235479.
Neri G, Opitz JM.
Sixty years of X-linked mental retardation: a historical footnote.
Am J Med Genet. 2000 Fall;97(3):228-33. PubMed PMID: 11449492.
Petronzelli F, Sollima D, Coppola G, Martini-Neri ME, Neri G, Genuardi M.
CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in
a melanoma/neurofibroma kindred.
Genes Chromosomes Cancer. 2001 Aug;31(4):398-401. PubMed PMID: 11433531.
Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C,
Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco
M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R.
Cryptic telomeric rearrangements in subjects with mental retardation associated with
dysmorphism and congenital malformations.
J Med Genet. 2001 Jun;38(6):417-20. PubMed PMID: 11424927; PubMed Central PMCID:
PMC1734891.
Caluseriu O, Cordisco EL, Viel A, Majore S, Nascimbeni R, Pucciarelli S, Genuardi M.
Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer
phenocopy in hereditary nonpolyposis colorectal cancer.
Hum Mutat. 2001 Jun;17(6):521. PubMed PMID: 11385712.
Gurrieri F, Steindl K, Giglio S, Neri G.
New syndrome of mental retardation, Robin sequence, and brachydactyly.
Am J Med Genet. 2001 Apr 15;100(1):49-51. PubMed PMID: 11337748.
Zollino M, Neri G.
Genotype-phenotype correlations in Wolf-Hirschhorn syndrome.
Eur J Hum Genet. 2001 Feb;9(2):150. PubMed PMID: 11313750.
Sossi V, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping
and a relatively mild SMA phenotype.
Eur J Hum Genet. 2001 Feb;9(2):113-20. PubMed PMID: 11313744.
Chiurazzi P, Hamel BC, Neri G.
XLMR genes: update 2000.
Eur J Hum Genet. 2001 Feb;9(2):71-81. Review. PubMed PMID: 11313739.
Mirabella M, Servidei S, Broccolini A, Gandolfi N, Ricci E, Neri G, Tonali P, Brahe C.
The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to
inefficient transcription.
Neurogenetics. 1999 Apr;2(2):97-100. PubMed PMID: 10369885.
Zollino M, Neri G.
Partial deletion of chromosome 12q is not usually associated with CFC syndrome.
Am J Med Genet. 2000 Nov 27;95(3):296. PubMed PMID: 11102944.
Schwartz CE, Gillessen-Kaesbach G, May M, Cappa M, Gorski J, Steindl K, Neri G.
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
Eur J Hum Genet. 2000 Nov;8(11):869-74. PubMed PMID: 11093277.
Laurenti L, d'Onofrio G, Sica S, Chiusolo P, Zini G, Piccirillo N, Zollino M, Garzia M, Sora F, Leone
G.
Secondary myelodysplastic syndromes following peripheral blood stem cell transplantation:
morphological, cytogenetic and clonality evaluation and the limitation of FAB criteria.
Bone Marrow Transplant. 2000 Jul;26(2):241-2. PubMed PMID: 10918441.
Neri G, Opitz JM.
Heterogeneity of cardio-facio-cutaneous syndrome.
Am J Med Genet. 2000 Nov 13;95(2):144. PubMed PMID: 11078564.
Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R,
Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G.
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
Am J Med Genet. 2000 Sep 18;94(3):254-61. PubMed PMID: 10995514.
Sertié AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR.
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a
critical role in the maintenance of retinal structure and in neural tube closure (Knobloch
syndrome).
Hum Mol Genet. 2000 Aug 12;9(13):2051-8. PubMed PMID: 10942434.
Andreassi C, Patrizi AL, Brahe C, Eboli ML.
Excitatory amino acid stimulation of the survival of rat cerebellar granule cells in culture is
associated with an increase in SMN, the spinal muscular atrophy disease gene product.
Amino Acids. 2000;18(3):299-304. PubMed PMID: 10901626.
Brahe C.
Copies of the survival motor neuron gene in spinal muscular atrophy: the more, the better.
Neuromuscul Disord. 2000 Jun;10(4-5):274-5. Review. PubMed PMID: 10838254.
Frugier T, Tiziano FD, Cifuentes-Diaz C, Miniou P, Roblot N, Dierich A, Le Meur M, Melki J.
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular
atrophy.
Hum Mol Genet. 2000 Mar 22;9(5):849-58. PubMed PMID: 10749994.
Genuardi M, Pomponi MG, Torrisi L, Neri G, Stagni ML, Tozzi C.
45,X/47,XX, + 18 constitutional mosaicism: clinical presentation and evidence for a somatic
origin of the aneuploid cell lines.
J Med Genet. 1999 Jun;36(6):496-8. PubMed PMID: 10874643; PubMed Central PMCID:
PMC1734376.
Donadio A, Garavelli L, Banchini G, Neri G.
Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?
Am J Med Genet. 2000 Mar 13;91(2):164-5. PubMed PMID: 10748421.
Chiurazzi P, Oostra BA.
Genetics of mental retardation.
Curr Opin Pediatr. 2000 Dec;12(6):529-35. Review. PubMed PMID: 11106270.
Hamel BC, Chiurazzi P, Lubs HA.
Syndromic XLMR genes (MRXS): update 2000.
Am J Med Genet. 2000 Oct 23;94(5):361-3. Review. PubMed PMID: 11050617.
Brodsky RA, Mukhina GL, Li S, Nelson KL, Chiurazzi PL, Buckley JT, Borowitz MJ.
Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using
fluorescent aerolysin.
Am J Clin Pathol. 2000 Sep;114(3):459-66. PubMed PMID: 10989647.
Neri G, Opitz J.
Syndromal (and nonsyndromal) forms of male pseudohermaphroditism.
Am J Med Genet. 1999 Dec 29;89(4):201-9. Review. PubMed PMID: 10727995.
Zollino M, Tiziano F, Di Stefano C, Neri G.
Partial duplication of the long arm of chromosome 15: confirmation of a causative role in
craniosynostosis and definition of a 15q25-qter trisomy syndrome.
Am J Med Genet. 1999 Dec 22;87(5):391-4. PubMed PMID: 10594876.
Torrioli MG, Vernacotola S, Mariotti P, Bianchi E, Calvani M, De Gaetano A, Chiurazzi P, Neri G.
Double-blind, placebo-controlled study of L-acetylcarnitine for the treatment of hyperactive
behavior in fragile X syndrome.
Am J Med Genet. 1999 Dec 3;87(4):366-8. PubMed PMID: 10588848.
Chiurazzi P, Pomponi MG, Sharrock A, Macpherson J, Lormeau S, Morel ML, Rousseau F.
DNA panel for interlaboratory standardization of haplotype studies on the fragile X syndrome
and proposal for a new allele nomenclature.
Am J Med Genet. 1999 Apr 2;83(4):347-9. PubMed PMID: 10208178.
Vitali T, Sossi V, Tiziano F, Zappata S, Giuli A, Paravatou-Petsotas M, Neri G, Brahe C.
Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for
SMN2 in the modulation of disease severity in SMA patients.
Hum Mol Genet. 1999 Dec;8(13):2525-32. PubMed PMID: 10556301.
Riccio A, Aaltonen LA, Godwin AK, Loukola A, Percesepe A, Salovaara R, Masciullo V, Genuardi
M, Paravatou-Petsotas M, Bassi DE, Ruggeri BA, Klein-Szanto AJ, Testa JR, Neri G, Bellacosa A.
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite
instability.
Nat Genet. 1999 Nov;23(3):266-8. PubMed PMID: 10545939.
Chiurazzi P, Pomponi MG, Pietrobono R, Bakker CE, Neri G, Oostra BA.
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the
FMR1 gene.
Hum Mol Genet. 1999 Nov;8(12):2317-23. PubMed PMID: 10545613.
Neri G, Chiurazzi P.
X-linked mental retardation.
Adv Genet. 1999;41:55-94. Review. PubMed PMID: 10494617.
Federico A, Tomasetti P, Zollino M, Diomedi M, Dotti MT, De Stefano N, Gualdi GF, Neri G, Gigli
GL.
Association of trisomy 9p and band heterotopia.
Neurology. 1999 Jul 22;53(2):430-2. PubMed PMID: 10430446.
Sertié AL, Brahe C, Passos-Bueno MR.
A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic
markers.
Mutations in brief no. 212. Online. Hum Mutat. 1999;13(2):170. PubMed PMID: 10094555.
Cole SE, Wiltshire T, Rue EE, Morrow D, Hieter P, Brahe C, Fisher EM, Katsanis N, Reeves RH.
High-resolution comparative physical mapping of mouse chromosome 10 in the region of
homology with human chromosome 21.
Mamm Genome. 1999 Mar;10(3):229-34. PubMed PMID: 10051316.
Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M,
Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD.
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking
sequences in the FMR1 gene in eight fragile X patients.
Am J Med Genet. 1999 Jul 30;85(3):311-6. PubMed PMID: 10398249.
de Leon MP, Pedroni M, Benatti P, Percesepe A, Di Gregorio C, Foroni M, Rossi G, Genuardi M,
Neri G, Leonardi F, Viel A, Capozzi E, Boiocchi M, Roncucci L.
Hereditary colorectal cancer in the general population: from cancer registration to molecular
diagnosis.
Gut. 1999 Jul;45(1):32-8. PubMed PMID: 10369701; PubMed Central PMCID: PMC1727564.
Genuardi M, Tozzi C, Pomponi MG, Stagni ML, Della Monica M, Scarano G, Calvieri F, Torrisi L,
Neri G.
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental
disomy studies.
Eur J Hum Genet. 1999 May-Jun;7(4):421-6. PubMed PMID: 10352932.
Gurrieri F, Battaglia A, Torrisi L, Tancredi R, Cavallaro C, Sangiorgi E, Neri G.
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11q13.
Neurology. 1999 May 12;52(8):1694-7. PubMed PMID: 10331703.
Patrizi AL, Tiziano F, Zappata S, Donati MA, Neri G, Brahe C.
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy
patients and its relevance for diagnosis.
Eur J Hum Genet. 1999 Apr;7(3):301-9. PubMed PMID: 10234506.
Battaglia A, Gurrieri F.
Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome.
Am J Med Genet. 1999 Jan 1;82(1):100. PubMed PMID: 9916855.
Lin AE, Neri G, Hughes-Benzie R, Weksberg R.
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.
Am J Med Genet. 1999 Apr 23;83(5):378-81. Review. PubMed PMID: 10232747.
Zollino M, Bajer J, Neri G.
Chromosome instability limited to the aneuploid clone in the Pallister-Killian syndrome: a
pitfall in prenatal diagnosis.
Prenat Diagn. 1999 Feb;19(2):184-5. PubMed PMID: 10215084.
Laurenti L, Salutari P, Sica S, Piccirillo N, Zini G, Zollino M, Leone G.
Acute myeloid leukemia after iodine-131 treatment for thyroid disorders.
Ann Hematol. 1998 Jun;76(6):271-2. PubMed PMID: 9692815.
Leone G, Sica S, Ortu La Barbera E, Testa U, Riccioni R, Labbaye C, Peschle C, Zollino M.
Secondary leukemia responsive to retinoic acid with abnormal localization of RARalpha
protein: a report of two cases.
Blood. 1998 Jun 15;91(12):4811-2. PubMed PMID: 9616182.
Sabatelli M, Mignogna T, Lippi G, Servidei S, Zollino M, Padua L, Lo Monaco M, De Armas L,
Mereu ML, Tonali P.
Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of
sensory large myelinated fibers: confirmation of a new entity.
Am J Med Genet. 1998 Jan 23;75(3):309-13. PubMed PMID: 9475604.
Lapenta V, Sossi V, Gosset P, Vayssettes C, Vitali T, Rabatel N, Tassone F, Blouin JL, Scott HS,
Antonarakis SE, Créau N, Brahe C.
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.
Genomics. 1998 Apr 1;49(1):1-13. PubMed PMID: 9570943.
Lubs H, Chiurazzi P, Arena J, Schwartz C, Tranebjaerg L, Neri G.
XLMR genes: update 1998.
Am J Med Genet. 1999 Apr 2;83(4):237-47. Review. PubMed PMID: 10208155.
Holden JJ, Percy M, Allingham-Hawkins D, Brown WT, Chiurazzi P, Fisch G, Gane L, Gunter C,
Hagerman R, Jenkins EC, Kooy RF, Lubs HA, Murray A, Neri G, Schwartz C, Tranebjaerg L, Villard
L, Willems PJ.
Eighth International workshop on the fragile X syndrome and X-linked mental retardation,
August 16-22, 1997.
Am J Med Genet. 1999 Apr 2;83(4):221-36. PubMed PMID: 10208154.
Bellacosa A, Cicchillitti L, Schepis F, Riccio A, Yeung AT, Matsumoto Y, Golemis EA, Genuardi M,
Neri G.
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair
protein MLH1.
Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3969-74. PubMed PMID: 10097147; PubMed Central
PMCID: PMC22404.
Zollino M, Wright TJ, Di Stefano C, Tosolini A, Battaglia A, Altherr MR, Neri G.
"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular
deletion resulting in Wolf-Hirschhorn syndrome phenotype.
Am J Med Genet. 1999 Feb 19;82(5):371-5. PubMed PMID: 10069706.
Cattani P, Hohaus S, Bellacosa A, Genuardi M, Cavallo S, Rovella V, Almadori G, Cadoni G, Galli J,
Maurizi M, Fadda G, Neri G.
Association between cyclin D1 (CCND1) gene amplification and human papillomavirus
infection in human laryngeal squamous cell carcinoma.
Clin Cancer Res. 1998 Nov;4(11):2585-9. PubMed PMID: 9829720.
Cappa M, Raguso G, Palmiotto T, Faedda A, Gurreri F, Neri G, Deghenghi R, Loche S.
The growth hormone response to hexarelin in patients with Prader-Willi syndrome.
J Endocrinol Invest. 1998 Sep;21(8):501-5. PubMed PMID: 9801990.
Neri G, Steindl K, Mazzei A, Battaglia A, Cappa M.
Nonsyndromal overgrowth in males with mild psychomotor delay.
Am J Med Genet. 1998 Oct 2;79(4):291-3. PubMed PMID: 9781910.
Neri G, Gurrieri F, Zanni G, Lin A.
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome.
Am J Med Genet. 1998 Oct 2;79(4):279-83. Review. PubMed PMID: 9781908.
Cohen MM Jr, Neri G.
New overgrowth syndrome and FGFR3 dosage effect.
J Med Genet. 1998 Apr;35(4):348-9. PubMed PMID: 9598741; PubMed Central PMCID:
PMC1051300.
Genuardi M, Anti M, Capozzi E, Leonardi F, Fornasarig M, Novella E, Bellacosa A, Valenti A,
Gasbarrini GB, Roncucci L, Benatti P, Percesepe A, Ponz de Leòn M, Coco C, de Paoli A, Valentini
M, Boiocchi M, Neri G, Viel A.
MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the
standard criteria for hereditary nonpolyposis colorectal cancer.
Int J Cancer. 1998 Mar 16;75(6):835-9. PubMed PMID: 9506527.
Genuardi M, Viel A, Bonora D, Capozzi E, Bellacosa A, Leonardi F, Valle R, Ventura A, Pedroni M,
Boiocchi M, Neri G.
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing
of colorectal cancer susceptibility.
Hum Genet. 1998 Jan;102(1):15-20. PubMed PMID: 9490293.
Chiurazzi P, Pomponi MG, Willemsen R, Oostra BA, Neri G.
In vitro reactivation of the FMR1 gene involved in fragile X syndrome.
Hum Mol Genet. 1998 Jan;7(1):109-13. PubMed PMID: 9384610.
Mastrangelo R, Tornesello A, Mastrangelo S, Bembo V, Zollino M, Neri G.
Cytogenetic evidence for a less malignant leukemic cell population in the central nervous system
in a critical case of acute myeloblastic leukemia.
Med Pediatr Oncol. 1998 Feb;30(2):91-4. PubMed PMID: 9403016.
Gibbons RJ, Bachoo S, Picketts DJ, Aftimos S, Asenbauer B, Bergoffen J, Berry SA, Dahl N, Fryer
A, Keppler K, Kurosawa K, Levin ML, Masuno M, Neri G, Pierpont ME, Slaney SF, Higgs DR.
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like
domain.
Nat Genet. 1997 Oct;17(2):146-8. PubMed PMID: 9326931.
Gentiloni N, Febbraro S, Barone C, Lemmo G, Neri G, Zannoni G, Capelli A, Gasbarrini G.
Peritoneal mesothelioma in recurrent familial peritonitis.
J Clin Gastroenterol. 1997 Jun;24(4):276-9. Review. PubMed PMID: 9252860.
Percesepe A, Benatti P, Roncucci L, Sassatelli R, Fante R, Ganazzi D, Bellacosa A, Genuardi M, Neri
G, Viel A, Ponz de Leon M.
Survival analysis in families affected by hereditary non-polyposis colorectal cancer.
Int J Cancer. 1997 May 2;71(3):373-6. PubMed PMID: 9139871.
Hohaus S, Voso MT, Orta-La Barbera E, Cavallo S, Bellacosa A, Rutella S, Rumi C, Genuardi M,
Neri G, Leone G.
Telomerase activity in human hematopoietic progenitor cells.
Haematologica. 1997 May-Jun;82(3):262-8. PubMed PMID: 9234570.
Sabatino G, Verrotti A, Domizio S, Angeiozzi B, Chiarelli F, Neri G.
The cardio-facio-cutaneous syndrome: a long-term follow-up of two patients, with special
reference to the neurological features.
Childs Nerv Syst. 1997 Apr;13(4):238-41. PubMed PMID: 9202862.
Serra A, Bova R, Bellanova G, Chindemi A, Zappata S, Brahe C.
Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity,
and mental retardation.
Am J Med Genet. 1997 Aug 8;71(2):139-43. PubMed PMID: 9217211.
Trikka D, Davis T, Lapenta V, Brahe C, Kessling AM.
Human COL6A1: genomic characterization of the globular domains, structural and
evolutionary comparison with COL6A2.
Mamm Genome. 1997 May;8(5):342-5. PubMed PMID: 9107679.
Lapenta V, Chiurazzi P, van der Spek P, Pizzuti A, Hanaoka F, Brahe C.
SMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and
defines a novel gene family.
Genomics. 1997 Mar 1;40(2):362-6. PubMed PMID: 9119407.
Korenberg JR, Aaltonen J, Brahe C, Cabin D, Creau N, Delabar JM, Doering J, Gardiner K, Hubert
RS, Ives J, Kessling A, Kudoh J, Lafrenière R, Murakami Y, Ohira M, Ohki M, Patterson D, Potier
MC, Quackenbush J, Reeves RH, Sakaki Y, Shimizu N, Soeda E, Van Broeckhoven C, Yaspo ML.
Report and abstracts of the Sixth International Workshop on Human Chromosome 21 Mapping
1996.
Cold Spring Harbor, New York, USA. May 6-8,1996. Cytogenet Cell Genet. 1997;79(1-2):21-52.
PubMed PMID: 9533011.
Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri
G.
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental
retardation, and epilepsy.
Neurology. 1997 Apr;48(4):1081-6. PubMed PMID: 9109904.
Genuardi M, Gasparini P, Neri G, Zelante L.
Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field
complex.
Am J Med Genet. 1997 Jan 20;68(2):190-4. PubMed PMID: 9028457.
Rizzo R, Pavone V, Corsello G, Sorge G, Neri G, Opitz JM.
Autosomal dominant and sporadic radio-ulnar synostosis.
Am J Med Genet. 1997 Jan 20;68(2):127-34. PubMed PMID: 9028445.
Scambia G, Masciullo V, Benedetti Panici P, Marone M, Ferrandina G, Todaro N, Bellacosa A, Jain
SK, Neri G, Piffanelli A, Mancuso S.
Prognostic significance of ras/p21 alterations in human ovarian cancer.
Br J Cancer. 1997;75(10):1547-53. PubMed PMID: 9166952; PubMed Central PMCID:
PMC2223505.
Viel A, Genuardi M, Capozzi E, Leonardi F, Bellacosa A, Paravatou-Petsotas M, Pomponi MG,
Fornasarig M, Percesepe A, Roncucci L, Tamassia MG, Benatti P, Ponz de Leon M, Valenti A,
Covino M, Anti M, Foletto M, Boiocchi M, Neri G.
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary
nonpolyposis colorectal cancer.
Genes Chromosomes Cancer. 1997 Jan;18(1):8-18. PubMed PMID: 8993976.
Bettio D, Rizzi N, Giardino D, Gurrieri F, Silvestri G, Grugni G, Larizza L.
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi
patients.
Am J Med Genet. 1997 Jan 10;68(1):99-104. PubMed PMID: 8986287.
Zollino M, Bova R, Neri G.
From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?
Am J Med Genet. 1996 Dec 2;66(1):113-5. PubMed PMID: 8957527.
Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G.
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I.
Hum Mol Genet. 1996 Dec;5(12):1971-6. PubMed PMID: 8968751.
Brahe C, Bertini E.
Spinal muscular atrophies: recent insights and impact on molecular diagnosis.
J Mol Med. 1996 Oct;74(10):555-62. Review. PubMed PMID: 8912176.
van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van
Ommen GJ, Brahe C, Buys CH.
Apparent gene conversions involving the SMN gene in the region of the spinal muscular
atrophy locus on chromosome 5.
Am J Hum Genet. 1996 Oct;59(4):834-8. PubMed PMID: 8808598; PubMed Central PMCID:
PMC1914786.
Guglielmo GD, Brahe C, Di Muzio A, Uncini A.
Benign monomelic amyotrophies of upper and lower limb are not associated to deletions of
survival motor neuron gene.
J Neurol Sci. 1996 Sep 15;141(1-2):111-3. PubMed PMID: 8880702.
Wulfsberg EA, Leana-Cox J, Neri G.
What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and
conotruncal anomalies face syndromes.
Am J Med Genet. 1996 Nov 11;65(4):317-9. PubMed PMID: 8923942.
Hohaus S, Cavallo S, Bellacosa A, Genuardi M, Galli J, Cadoni G, Almadori G, Lauriola L, Litwin S,
Maurizi M, Neri G.
Telomerase activity in human laryngeal squamous cell carcinomas.
Clin Cancer Res. 1996 Nov;2(11):1895-900. PubMed PMID: 9816146.
Neri G, Zollino M.
More on the Noonan-CFC controversy.
Am J Med Genet. 1996 Oct 16;65(2):100. PubMed PMID: 8911597.
Biesecker LG, Abbott M, Allen J, Clericuzio C, Feuillan P, Graham JM Jr, Hall J, Kang S, Olney AH,
Lefton D, Neri G, Peters K, Verloes A.
Report from the workshop on Pallister-Hall syndrome and related phenotypes.
Am J Med Genet. 1996 Oct 2;65(1):76-81. PubMed PMID: 8914745.
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Mastroiacovo P, Gianotti A, Livini
E, Lalatta F, Selicorni A, Andria G, Scarano G, Della Monica M, Rizzo R, Zelante L, Stabile M,
Gabrielli O, Neri G.
The Williams syndrome: an Italian collaborative study.
Minerva Pediatr. 1996 Oct;48(10):421-8. PubMed PMID: 9017917.
Chiurazzi P, Destro-Bisol G, Genuardi M, Oostra BA, Spedini G, Neri G.
Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan
population.
Am J Med Genet. 1996 Jul 12;64(1):216-9. PubMed PMID: 8826479.
Chiurazzi P, Genuardi M, Kozak L, Giovannucci-Uzielli ML, Bussani C, Dagna-Bricarelli F, Grasso
M, Perroni L, Sebastio G, Sperandeo MP, Oostra BA, Neri G.
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their
heterogeneity.
Am J Med Genet. 1996 Jul 12;64(1):209-15. PubMed PMID: 8826478.
Chiurazzi P, Macpherson J, Sherman S, Neri G.
Significance of linkage disequilibrium between the fragile X locus and its flanking markers.
Am J Med Genet. 1996 Jul 12;64(1):203-8. Review. PubMed PMID: 8826477.
Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G.
XLMR genes: update 1996.
Am J Med Genet. 1996 Jul 12;64(1):147-57. Review. PubMed PMID: 8826465.
Rocca B, Bellacosa A, De Cristofaro R, Neri G, Della Ventura M, Maggiano N, Rumi C, Landolfi R.
Wiskott-Aldrich syndrome: report of an autosomal dominant variant.
Blood. 1996 Jun 1;87(11):4538-43. PubMed PMID: 8639821.
Manoukian S, Lalatta F, Selicorni A, Tadini G, Cavalli R, Neri G.
Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation.
Am J Med Genet. 1996 May 17;63(2):382-5. PubMed PMID: 8725790.
Scarano G, Della Monica M, Lonardo F, Neri G.
Novel findings in a patient with Weaver or a Weaver-like syndrome.
Am J Med Genet. 1996 May 17;63(2):378-81. PubMed PMID: 8725789.
Sebastio G, Perone L, Guzzetta V, Sebastio L, Vicari L, Della Casa R, Gurrieri F, Zappata S,
Pomponi MG, Mazzei A, Neri G, Andria G, Brahe C.
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)
(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.
Am J Med Genet. 1996 May 17;63(2):366-72. PubMed PMID: 8725787.
Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L,
Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P.
A split hand-split foot (SHFM3) gene is located at 10q24-->25.
Am J Med Genet. 1996 Apr 24;62(4):427-36. PubMed PMID: 8723077.
Zappata S, Tiziano F, Neri G, Brahe C.
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the
same family.
Hum Genet. 1996 Mar;97(3):315-8. PubMed PMID: 8786072.
Heouaine A, Mareni C, Varesco L, Genuardi M, Neri G.
Genetic counseling in hereditary non-polyposis colorectal cancer.
Tumori. 1996 Mar-Apr;82(2):136-42. Review. PubMed PMID: 8644375.
Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A,
Forabosco A, Schlessinger D.
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.
Nat Genet. 1996 Mar;12(3):241-7. PubMed PMID: 8589713.
Bellacosa A, Almadori G, Cavallo S, Cadoni G, Galli J, Ferrandina G, Scambia G, Neri G.
Cyclin D1 gene amplification in human laryngeal squamous cell carcinomas: prognostic
significance and clinical implications.
Clin Cancer Res. 1996 Jan;2(1):175-80. PubMed PMID: 9816104.
Scarano G, Della Monica M, Capece G, Lonardo F, Neri G, Maroteaux P.
A case of short-rib syndrome without polydactyly in a stillborn: a new type?
Birth Defects Orig Artic Ser. 1996;30(1):95-101. PubMed PMID: 9125350.
Genuardi M, Scarano G, Tozzi C, Chinca M, Della Monica M, Martini-Neri ME, Picardi P, Neri G.
Malformation syndromes with kidney dysplasia.
Birth Defects Orig Artic Ser. 1996;30(1):379-95. PubMed PMID: 9125343.
Bussani Mastellone C, Giovannucci Uzielli ML, Grasso M, Chiurazzi P, Neri G, Wang Q.
Combined molecular and cytogenetic analysis for the rapid diagnosis of fragile X syndrome.
Acta Genet Med Gemellol (Roma). 1996;45(1-2):165-8. PubMed PMID: 8872026.
Battaglia A, Ferrari AR, Orsitto E, Gibilisco G, Neri G.
New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy
and skeletal abnormalities.
Clin Dysmorphol. 1996 Jan;5(1):41-7. PubMed PMID: 8867658.
Gurrieri F, Muenke M.
The search for genes that cause holoprosencephaly: possible approaches. Birth Defects Orig
Artic Ser. 1996;30(1):247-50.
Review. PubMed PMID: 9125331.
Neri G, Gurrieri F, Genuardi M.
Oral-facial-skeletal syndromes.
Am J Med Genet. 1995 Nov 20;59(3):365-8. Review. PubMed PMID: 8599363.
Zollino M, Genuardi M, Bajer J, Tornesello A, Mastrangelo S, Zampino G, Mastrangelo R, Neri G.
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature.
Leuk Res. 1995 Oct;19(10):733-6. PubMed PMID: 7500650.
Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G.
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal
muscular atrophy.
Lancet. 1995 Sep 16;346(8977):741-2. PubMed PMID: 7658877.
Brahe C, Zappata S, Bertini E.
Presymptomatic diagnosis of spinal muscular atrophy (SMA) III confirmed by deletion analysis
of the survival motor neuron gene.
Am J Med Genet. 1995 Oct 23;59(1):101-2. PubMed PMID: 8849000.
van der Steege G, Draaijers TG, Grootscholten PM, Osinga J, Anzevino R, Velonà I, Den Dunnen JT,
Scheffer H, Brahe C, van Ommen GJ, et al.
A provisional transcript map of the spinal muscular atrophy (SMA) critical region.
Eur J Hum Genet. 1995;3(2):87-95. PubMed PMID: 7552146.
Bellacosa A, de Feo D, Godwin AK, Bell DW, Cheng JQ, Altomare DA, Wan M, Dubeau L, Scambia
G, Masciullo V, Ferrandina G, Benedetti Panici P, Mancuso S, Neri G, Testa JR.
Molecular alterations of the AKT2 oncogene in ovarian and breast carcinomas.
Int J Cancer. 1995 Aug 22;64(4):280-5. PubMed PMID: 7657393.
Zollino M, Zampino G, Torrioli G, Pomponi MG, Neri G.
Further contribution to the description of phenotypes associated with partial 4q duplication.
Am J Med Genet. 1995 May 22;57(1):69-73. Review. PubMed PMID: 7645603.
DeBrasi D, Genardi M, D'Agostino A, Calvieri F, Tozzi C, Varrone S, Neri G.
Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with
trisomy of chromosome 8.
Hum Genet. 1995 May;95(5):519-25. PubMed PMID: 7759072.
Serra A, Neri G.
Cold war against the Vatican?
Nature. 1995 Apr 13;374(6523):589. PubMed PMID: 7772175.
Cox-Froncillo MC, Zollino M, Del Poeta G, Bajer J, Stasi R, Venditti A, Tribalto M, Neri G, Papa G.
Trisomy 4 as the sole karyotypic anomaly in acute biphenotypic leukemia with B lineage
markers and in acute minimally differentiated myeloid leukemia (M0).
Cancer Genet Cytogenet. 1995 Mar;80(1):66-7. PubMed PMID: 7697636.
Sorge G, Ardito S, Genuardi M, Pavone V, Rizzo R, Conti G, Neri G, Katz BE, Opitz JM.
Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a
developmental field defect.
Am J Med Genet. 1995 Feb 13;55(4):427-32. PubMed PMID: 7762582.
Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L.
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the
existence of a limb defect gene in 6q21.
Am J Med Genet. 1995 Jan 30;55(3):315-8. PubMed PMID: 7726229.
Cox-Froncillo MC, Genuardi M, Bajer J, Livdi E, Adorno G, Venditti A, Masi M, Giudiceandrea P,
Neri G, Papa G.
First report of t(8;21)(q22;q22) in a case of de novo acute monoblastic leukemia.
Cancer Genet Cytogenet. 1995 Jan;79(1):82-5. PubMed PMID: 7850759.
Mastrangelo R, Tornesello A, Mastrangelo S, Zollino M, Neri G.
Constitutional trisomy 8 mosaicism evolving to primary myelodysplastic syndrome: a new
subset of biologically related patients?
Am J Hematol. 1995 Jan;48(1):67-8. PubMed PMID: 7832204.
Genuardi M, Bardoni B, Floridia G, Chiurazzi P, Scarano G, Zollino M, Garcea N, Martini-Neri ME,
Neri G.
Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal.
Clin Genet. 1995 Jan;47(1):38-41. PubMed PMID: 7774042.
Gurrieri F, Genuardi M, Chiurazzi P, Gillessen-Kaesbach G, Neri G.
Exclusion of linkage between autosomal dominant split hand/split foot and markers from
chromosome 7q: further evidence for genetic heterogeneity.
Am J Hum Genet. 1994 Oct;55(4):853-5. PubMed PMID: 7942863; PubMed Central PMCID:
PMC1918293.
Pagano L, Ortu-La Barbera EO, Voso MT, Zollino M, Laurenti L, Marra R, Leone G.
Salvage chemotherapy with pentostatin in prolymphocytic leukemia.
Haematologica. 1994 Nov-Dec;79(6):542-5. PubMed PMID: 7896214.
Genuardi M, Calvieri F, Tozzi C, Coslovi R, Neri G.
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the
corpus callosum.
Clin Dysmorphol. 1994 Oct;3(4):292-6. Review. PubMed PMID: 7894733.
Zappata S, Petersen MB, König U, Blaschak J, Chakravarti A, Tassone F, Serra A, Antonarakis SE,
Brahe C.
Highly polymorphic repeat marker within the beta-amyloid precursor protein gene.
Hum Genet. 1994 Jan;93(1):85-6. PubMed PMID: 8270262.
Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G, Cappa M, Neri G.
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.
Am J Med Genet. 1994 Sep 1;52(3):302-7. PubMed PMID: 7810561.
Neri G, Chiurazzi P, Arena JF, Lubs HA.
XLMR genes: update 1994.
Am J Med Genet. 1994 Jul 15;51(4):542-9. Review. PubMed PMID: 7943038.
Chiurazzi P, Kozak L, Neri G.
Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs.
germline mosaicism in the fragile X syndrome.
Am J Med Genet. 1994 Jul 15;51(4):517-21. Review. PubMed PMID: 7943033.
Pomponi MG, Neri G.
Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro.
Am J Med Genet. 1994 Jul 15;51(4):447-50. PubMed PMID: 7943015.
Chiurazzi P, de Graaff E, Ng J, Verkerk AJ, Wolfson S, Fisch GS, Kozak L, Neri G, Oostra BA.
No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of
the fragile X syndrome.
Am J Med Genet. 1994 Jul 15;51(4):309-14. PubMed PMID: 7942992.
Sutherland GR, Brown WT, Hagerman R, Jenkins E, Lubs H, Mandel JL, Nelson D, Neri G,
Partington MW, Richards RI, et al.
Sixth international workshop on the fragile X and X-linked mental retardation.
Am J Med Genet. 1994 Jul 15;51(4):281-93. PubMed PMID: 7942989.
van der Steege G, Cobben JM, Brahe C, Osinga J, Zappata S, Scheffer H, Neri G, van Ommen GJ, ten
Kate LP, Buys CH.
Identification of key recombinants in multiplex SMA families.
Genomics. 1994 Jul 1;22(1):219-22. PubMed PMID: 7959774.
Capece G, Fasolino A, Della Monica M, Lonardo F, Scarano G, Neri G.
Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks
of gestation.
Prenat Diagn. 1994 Jun;14(6):502-5. PubMed PMID: 7937589.
Orth U, Gurrieri F, Behmel A, Genuardi M, Cremer M, Gal A, Neri G.
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European
families.
Am J Med Genet. 1994 May 1;50(4):388-90. PubMed PMID: 8209924.
Genuardi M, Gurrieri F, Neri G.
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1.
Am J Med Genet. 1994 Mar 1;50(1):101. PubMed PMID: 8160746.
Muenke M, Gurrieri F, Bay C, Yi DH, Collins AL, Johnson VP, Hennekam RC, Schaefer GB, Weik
L, Lubinsky MS, et al.
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and
evidence for genetic heterogeneity.
Proc Natl Acad Sci U S A. 1994 Aug 16;91(17):8102-6. PubMed PMID: 8058764; PubMed Central
PMCID: PMC44553.
Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R,
Farah LM, Lüleci G, et al.
A somatic origin of homologous Robertsonian translocations and isochromosomes.
Am J Hum Genet. 1994 Feb;54(2):290-302. PubMed PMID: 8304346; PubMed Central PMCID:
PMC1918173.
Gurrieri F, Trask BJ, van den Engh G, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, DietzBand J, Vergnaud G, Scherer SW, et al.
Physical mapping of the holoprosencephaly critical region on chromosome 7q36.
Nat Genet. 1993 Mar;3(3):247-51. PubMed PMID: 8485580.
Genuardi M, Pomponi MG, Sammito V, Bellussi A, Zollino M, Neri G.
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint
on 7q22.1.
Am J Med Genet. 1993 Nov 1;47(6):823-31. PubMed PMID: 8279479.
Kozák L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, Neri G.
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to
chromosomal region Xp21.1-Xp22.3.
J Med Genet. 1993 Oct;30(10):866-9. PubMed PMID: 8230164; PubMed Central PMCID:
PMC1016571.
McInnis MG, Chakravarti A, Blaschak J, Petersen MB, Sharma V, Avramopoulos D, Blouin JL,
König U, Brahe C, Matise TC, et al.
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM.
Genomics. 1993 Jun;16(3):562-71. PubMed PMID: 8325627.
Patterson D, Hart I, Lai LW, Brahe C, Moscetti A, Tassone F, Raimondi E, Jones C.
Molecular and cytogenetic characterization of a Chinese hamster/human hybrid cell line
containing a der (21)t(Ypter-->cenY::cen21-->21qter) chromosome.
Genomics. 1993 Jan;15(1):177-9. PubMed PMID: 8432530.
Zampino G, Mastroiacovo P, Ricci R, Zollino M, Segni G, Martini-Neri ME, Neri G.
Costello syndrome: further clinical delineation, natural history, genetic definition, and
nosology.
Am J Med Genet. 1993 Aug 15;47(2):176-83. Review. PubMed PMID: 8213903.
Velonà I, Zappata S, Tops CM, Fodde R, Khan PM, Neri G, Brahe C.
Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the
D5S524 locus.
Hum Mol Genet. 1993 Jun;2(6):829. PubMed PMID: 8353514.
Gigli GL, Diomedi M, Bernardi G, Placidi F, Marciani MG, Calia E, Maschio MC, Neri G.
Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel
genetic disorder.
Am J Med Genet. 1993 Mar 15;45(6):711-6. PubMed PMID: 8456849.
Zollino M, Leone G, Sica S, Bajer J, Neri G.
Trisomy 4 in acute myeloblastic and acute lymphoblastic leukemia.
Cancer Genet Cytogenet. 1993 Feb;65(2):115-9. PubMed PMID: 8453596.
Brahe C, Zappata S, Velonà I, Bertini E, Servidei S, Tonali P, Neri G.
Presymptomatic diagnosis of SMA III by genotype analysis.
Am J Med Genet. 1993 Feb 1;45(3):408-11. PubMed PMID: 8434634.
Genuardi M, Chiurazzi P, Capelli A, Neri G.
X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome.
Birth Defects Orig Artic Ser. 1993;29(1):235-41. PubMed PMID: 8280876.
Leone G, Sica S, De Stefano V, Teofili L, Larocca LM, D'Onofrio G, Zollino M.
Acute onset of juvenile myelodysplastic syndrome mimicking thrombotic thrombocytopenic
purpura and rapidly evolving in overt myeloid leukemia.
Am J Hematol. 1992 Sep;41(1):64-5. PubMed PMID: 1503103.
Leone G, La Rocca LM, Teofili L, De Candia E, Landolfi R, Sica S, Zini G, Zollino M, Tabilio A.
Lymph node blast crisis in chronic myeloid leukemia mimicking T-immunoblastic lymphoma.
Haematologica. 1992 Jul-Aug;77(4):311-4. PubMed PMID: 1427440.
Gurrieri F, Sammito V, Bellussi A, Neri G.
New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal
dysplasia.
Am J Med Genet. 1992 Oct 1;44(3):315-20. PubMed PMID: 1488978.
Gurrieri F, Cappa M, Neri G.
Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome.
Am J Med Genet. 1992 Sep 15;44(2):136-7. PubMed PMID: 1456280.
Gurrieri F, Neri G.
An additional patient with the 3C syndrome.
Clin Genet. 1992 May;41(5):263-5. PubMed PMID: 1606716.
Genuardi M, Flamia R, Palka G, Parruti G, Neri G.
Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q.
Clin Genet. 1992 May;41(5):259-62. PubMed PMID: 1606715.
Mandel JL, Hagerman R, Froster U, Brown WT, Jenkins EC, Jacobs P, TurnerG, Lubs H, Neri G.
Fifth international workshop on fragile X and X-linked mental retardation.
Am J Med Genet. 1992 Apr 15-May 1;43(1-2):5-27. PubMed PMID: 1605233.
Zollino M, Mastroiacovo P, Zampino G, Mariotti P, Neri G.
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and
pachygyria.
Am J Med Genet. 1992 Apr 15-May 1;43(1-2):452-7. PubMed PMID: 1605225.
Neri G, Chiurazzi P, Arena F, Lubs HA, Glass IA.
XLMR genes: update 1992.
Am J Med Genet. 1992 Apr 15-May 1;43(1-2):373-82. Review. PubMed PMID: 1605215.
Gurrieri F, Sammito V, Ricci B, Iossa M, Bellussi A, Neri G.
Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII).
Am J Med Genet. 1992 Apr 1;42(6):789-92. PubMed PMID: 1554016.
Tanci P, Genuardi M, Santini SA, Neri G.
PCR detection of an insertion/deletion polymorphism in intron 1 of the HRAS1 locus.
Nucleic Acids Res. 1992 Mar 11;20(5):1157. PubMed PMID: 1549493; PubMed Central PMCID:
PMC312120.
Neri G, Zollino M, Reynolds JF.
The Noonan-CFC controversy.
Am J Med Genet. 1991 Jun 1;39(3):367-70. PubMed PMID: 1867292.
Gurrieri F, Neri G.
A girl with the Lujan-Fryns syndrome.
Am J Med Genet. 1991 Feb-Mar;38(2-3):290-1. PubMed PMID: 2018074.
Pagano L, Larocca LM, Zollino M, Sica S, Storti S, Rotoli M, Marra R, Leone G.
Apparent isolated skin relapse in acute monocytic leukemia. A case report.
Tumori. 1991 Apr 30;77(2):172-4. PubMed PMID: 2048232.
Lalatta F, Livini E, Selicorni A, Briscioli V, Vita A, Lugo F, Zollino M, Gurrieri F, Neri G.
X-linked mental retardation with marfanoid habitus: first report of four Italian patients.
Am J Med Genet. 1991 Feb-Mar;38(2-3):228-32. PubMed PMID: 2018063.
Samanns C, Albrecht R, Neugebauer M, Neri G, Gal A.
Gene for non-specific X-linked mental retardation maps in the pericentromeric region.
Am J Med Genet. 1991 Feb-Mar;38(2-3):224-7. PubMed PMID: 2018062.
Neri G, Gurrieri F, Gal A, Lubs HA.
XLMR genes: update 1990.
Am J Med Genet. 1991 Feb-Mar;38(2-3):186-9. PubMed PMID: 2018056.
Brown WT, Jenkins E, Neri G, Lubs H, Shapiro LR, Davies KE, Sherman S, Hagerman R, Laird C.
Conference report: Fourth International Workshop on the fragile X and X-linked mental
retardation.
Am J Med Genet. 1991 Feb-Mar;38(2-3):158-72. Erratum in: Am J Med Genet 1991 Dec 1;41
(3):391. PubMed PMID: 1673296.
Zollino M, Genuardi M, Tanci P, Mango G, Rumi C, Mancini R, Neri G.
Chronic myelogenous leukemia in the course of chronic lymphocytic leukemia: evidence for an
independent clonal origin.
Leuk Res. 1991;15(4):269-73. PubMed PMID: 2030609.
Lalatta F, Clerici Bagozzi D, Salmoiraghi MG, Tagliabue P, Tischer C, Zollino M, Di Rocco C, Neri
G, Opitz JM.
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment.
Am J Med Genet. 1990 Dec;37(4):451-6. PubMed PMID: 2260586.
Moscetti A, Tassone F, Serra A, Brahe C.
D21S170 maps to terminal 21q22.3.
Nucleic Acids Res. 1990 Oct 25;18(20):6178. PubMed PMID: 1978295; PubMed Central PMCID:
PMC332470.
Brahe C, Tassone F, Moscetti A, Millington-Ward A, Bova R, Serra A.
Molecular study of parental origin of extra chromosome 21 in regular and de novo
translocation trisomies.
Am J Med Genet Suppl. 1990;7:125-8. PubMed PMID: 2149938.
Brahe C, Tassone F, Millington-Ward A, Serra A, Gardiner K.
Potential gene sequence isolation and regional mapping in human chromosome 21.
Am J Med Genet Suppl. 1990;7:120-4. PubMed PMID: 2127361.
Greggi S, Genuardi M, Benedetti-Panici P, Cento R, Scambia G, Neri G, Mancuso S.
Analysis of 138 consecutive ovarian cancer patients: incidence and characteristics of familial
cases.
Gynecol Oncol. 1990 Dec;39(3):300-4. PubMed PMID: 2258075.
Genuardi M, Zollino M, Bellussi A, Fuhrmann W, Neri G.
Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition
with low penetrance and variable expressivity.
Clin Genet. 1990 Nov;38(5):321-6. PubMed PMID: 2178076.
Zollino M, Genuardi M, Neri G.
Differential expression of FRA16B in peripheral lymphocytes and bone marrow cells.
Cancer Genet Cytogenet. 1990 Oct 15;49(2):229-33. PubMed PMID: 2208058.
Napolitano G, Palka G, Grimaldi S, Giuliani C, Laglia G, Calabrese G, Satta MA, Neri G, Monaco F.
Growth delay in Down syndrome and zinc sulphate supplementation.
Am J Med Genet Suppl. 1990;7:63-5. PubMed PMID: 2149976.
Neri G, Opitz JM.
Encomium and dedication: Angelo Serra--four decades in human and medical genetics.
Am J Med Genet Suppl. 1990;7:5-8. PubMed PMID: 2149973.
Serra A, Neri G.
Trisomy 21: conference report and 1990 update.
Am J Med Genet Suppl. 1990;7:11-9. Review. PubMed PMID: 2149935.
Serra A, Brahe C, Millington-Ward A, Neri G, Tedeschi B, Tassone F, Bova R.
Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and
molecular studies of nondisjunction.
Am J Med Genet Suppl. 1990;7:162-8. PubMed PMID: 1981475.
Neri G, Sammito V.
IVIC syndrome report by Czeizel et al.
Am J Med Genet. 1989 Jun;33(2):284. PubMed PMID: 2764040.
Pavone L, Rizzo R, Tiné A, Micali G, Sorge G, Neri G.
A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome.
Am J Med Genet. 1989 Jun;33(2):190-3. PubMed PMID: 2764029.
Larocca LM, Zollino M, Carbone A, Eboli ML, Mango G, Leone G.
Chronic myeloid leukemia with monoclonal gammopathy terminating in myeloid crisis and
immunoblastic lymphoma.
Tumori. 1989 Apr 30;75(2):106-9. PubMed PMID: 2741214.
Pavone L, Viljoen D, Ardito S, Rizzo R, Neri G, Longo G, Beighton P.
Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz
hypothesis on the fibular and tibial developmental fields.
Am J Med Genet. 1989 Jun;33(2):161-4. PubMed PMID: 2764023.
Marini R, Cappa M, Neri G.
Cutis verticis gyrata and chromosomal abnormalities.
Am J Dis Child. 1989 Mar;143(3):269-70. Erratum in: Am J Dis Child 1989 May;143(5):592.
Romana M [corrected to Marini R]. PubMed PMID: 2916502.
Calvieri F, Tozzi C, Benincori C, De Merulis MV, Bellussi A, Genuardi M, Neri G.
Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint
dislocations.
Eur J Pediatr. 1988 Aug;147(6):645-8. PubMed PMID: 3181206.
Genuardi M, Zollino M, Serra A, Leone G, Mancini R, Mango G, Neri G.
Long-term cytogenetic effects of antineoplastic treatment in relation to secondary leukemia.
Cancer Genet Cytogenet. 1988 Jul 15;33(2):201-11. PubMed PMID: 3383168.
Neri G, Sanfilippo S, Pavone L, Mollica F, Barberi I, Giuffrè L, Romano C, Mattina T, Cammarata
M, Ragusa MG, et al.
The fragile X in Sicily: an epidemiological survey.
Am J Med Genet. 1988 May-Jun;30(1-2):665-72. PubMed PMID: 3177477.
Zollino M, Eboli ML, Targaglione R, Marra R, Leone G.
Double gammopathy during L-3 lymphoblastic leukemia.
Haematologica. 1988 Sep-Oct;73(5):411-3. PubMed PMID: 3143644.
Leone G, Marra R, Pagano L, Storti S, Zollino M, Ricerca BM, Mango G.
Ph1-chromosome-positive chronic myelogenous leukemia following a 1-year 'off-therapy' acute
lymphoblastic leukemia.
Oncology. 1988;45(5):389-91. PubMed PMID: 3166122.
Sanfilippo S, Ragusa RM, Scillato F, Ruggeri M, Neri G.
Fragile X expression in normal and mentally retarded subjects: effect of treatment with an
antifolic agent.
Am J Med Genet. 1988 May-Jun;30(1-2):369-76. PubMed PMID: 3177459.
Neri G, Marini R, Cappa M, Borrelli P, Opitz JM.
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.
Am J Med Genet. 1988 May-Jun;30(1-2):287-99. PubMed PMID: 3177455.
Musumeci SA, Ferri R, Colognola RM, Neri G, Sanfilippo S, Bergonzi P.
Prevalence of a novel epileptogenic EEG pattern in the Martin-Bell syndrome.
Am J Med Genet. 1988 May-Jun;30(1-2):207-12. PubMed PMID: 3177446.
Sammito V, Motta D, Capodieci G, Sanfilippo S, Neri G.
IVIC syndrome: report of a second family.
Am J Med Genet. 1988 Apr;29(4):875-81. PubMed PMID: 3400733.
Neri G, Sammito V, Romano C, Sanfilippo S, Opitz JM.
Facial midline defect in the fetal alcohol syndrome: embryogenetic considerations in two clinical
cases.
Am J Med Genet. 1988 Mar;29(3):477-82. PubMed PMID: 3376992.
Zollino M, Genuardi M, De Santis R, Leone G, Marra R, Mancini R, Mango G, Neri G.
Partial duplication of chromosome 1q preceding the development of an L3 lymphoblastic
leukemia with t(8;14), secondary to treatment for Hodgkin's disease.
Eur J Haematol. 1988 Mar;40(3):193-7. PubMed PMID: 3162717.
Tozzi C, Calvieri F, Alesi L, Neri G.
Multiple "marker" chromosomes: a novel cytogenetic finding in a patient with mental
retardation and congenital anomalies.
Am J Med Genet. 1988 Feb;29(2):355-9. PubMed PMID: 3354606.
Ferrari S, Calabretta B, deRiel JK, Battini R, Ghezzo F, Lauret E, Griffin C, Emanuel BS, Gurrieri F,
Baserga R.
Structural and functional analysis of a growth-regulated gene, the human calcyclin.
J Biol Chem. 1987 Jun 15;262(17):8325-32. PubMed PMID: 3036810.
Genuardi M, Zollino M, Mancini R, Neri G.
Chromosome alterations in individuals at risk for treatment-induced leukemia.
Haematologica. 1987 Nov-Dec;72(6 Suppl):60-1. PubMed PMID: 3127301.
Neri G, Genuardi M, Natoli G, Costa P, Maggioni G.
A girl with G syndrome and agenesis of the corpus callosum.
Am J Med Genet. 1987 Oct;28(2):287-91. PubMed PMID: 3425610.
Cappa M, Borrelli P, Marini R, Neri G.
The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G
syndromes.
Am J Med Genet. 1987 Oct;28(2):303-9. PubMed PMID: 2827473.
Neri G, Sabatino G, Bertini E, Genuardi M.
The CFC syndrome--report of the first two cases outside the United States.
Am J Med Genet. 1987 Aug;27(4):767-71. PubMed PMID: 3425595.
Gal A, Weber B, Neri G, Serra A, Müller U, Schempp W, Page DC.
A 45,X male with Y-specific DNA translocated onto chromosome 15.
Am J Hum Genet. 1987 Jun;40(6):477-88. PubMed PMID: 3473936; PubMed Central PMCID:
PMC1684161.
Neri G, Bertini E, Serra A, Tedeschi B, Campana M, Tonali P, De Mercurio D, Angelini C.
Myotonic dystrophy and chromosome translocation segregating in the same family.
J Neurogenet. 1987 Jan;4(1):47-56. PubMed PMID: 3559794.
Zollino M, Neri G.
Protective effect of S-adenosylmethionine against the induction of chromosome fragile sites.
Acta Haematol. 1987;78 Suppl 1:100-3. PubMed PMID: 2963477.
Arwert F, Porck HJ, Fràter-Schröder M, Brahe C, Geurts van Kessel A, Westerveld A, Meera Khan P,
Zang K, Frants RR, Kortbeek HT, et al.
Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids
and monosomic meningioma cells.
Hum Genet. 1986 Dec;74(4):378-81. PubMed PMID: 3466852.
Brahe C, Bannetta P, Meera Khan P, Arwert F, Serra A.
Assignment of the catechol-O-methyltransferase gene to human chromosome 22 in somatic cell
hybrids.
Hum Genet. 1986 Nov;74(3):230-4. PubMed PMID: 3465676.
Brahe C, Bannetta P, Serra A, Arwert F.
The increased COMT activity in Down syndrome patients is not a consequence of dosage effect
owing to location of the gene on chromosome 21: further evidence.
Am J Med Genet. 1986 May;24(1):203-4. PubMed PMID: 2939719.
Larussa FM, Larocca LM, Venier A, Zollino M, Rusciani L, Serri F.
Distribution of circulating mononuclear cells in short-term PUVA-treated psoriatic patients and
healthy subjects.
Acta Derm Venereol. 1986;66(5):398-403. PubMed PMID: 2431576.
Reynolds JF, Neri G, Herrmann JP, Blumberg B, Coldwell JG, Miles PV, Opitz JM.
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous
involvement--the CFC syndrome.
Am J Med Genet. 1986 Nov;25(3):413-27. PubMed PMID: 3789005.
Campana M, Serra A, Neri G.
Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations.
Am J Med Genet. 1986 Jun;24(2):341-56. PubMed PMID: 3717213.
Sanfilippo S, Ragusa RM, Musumeci S, Neri G.
Fragile X mental retardation: prevalence in a group of institutionalized patients in Italy and
description of a novel EEG pattern.
Am J Med Genet. 1986 Jan-Feb;23(1-2):589-95. PubMed PMID: 3953669.
Neri G, Daniel A, Hammond N.
Chromosome 16q, eosinophilia, and leukemia.
Cancer Genet Cytogenet. 1985 Jan 15;14(3-4):371-2. PubMed PMID: 3967211.
Schempp W, Weber B, Serra A, Neri G, Gal A, Wolf U.
A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15.
Hum Genet. 1985;71(2):150-4. PubMed PMID: 4043963.
Neri G, Martini-Neri ME, Opitz JM, Freed JJ.
The Perlman syndrome: clinical and biological aspects.
Prog Clin Biol Res. 1985;200:269-76. PubMed PMID: 3001776.
Brahe C, Serra A, Morton NE.
Erythrocyte catechol-O-methyltransferase activity: genetic analysis in nuclear families with one
child affected by Down syndrome.
Am J Med Genet. 1985 Jun;21(2):373-84. PubMed PMID: 3160238.
Neri G, Blumberg B, Miles PV, Opitz JM.
Sensorineural deafness in the FG syndrome: report on four new cases.
Am J Med Genet. 1984 Oct;19(2):369-77. PubMed PMID: 6542310.
Neri G, Reynolds JF, Westphal J, Hinz J, Daniel A.
Interstitial deletion of chromosome 3p: report of a patient and delineation of a proximal 3p
deletion syndrome.
Am J Med Genet. 1984 Sep;19(1):189-93. PubMed PMID: 6496569.
Brahe C, Crosti N, Meera Khan P, Serra A.
Catechol-O-methyltransferase: a method for autoradiographic visualization of isozymes in
cellogel.
Biochem Genet. 1984 Feb;22(1-2):125-32. PubMed PMID: 6712584.
Neri G, Martini-Neri ME, Katz BE, Opitz JM.
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and
multiple congenital anomalies.
Am J Med Genet. 1984 Sep;19(1):195-207. PubMed PMID: 6093533.
Neri G.
Some questions on the significance of chromosome alterations in leukemias and lymphomas: a
review.
Am J Med Genet. 1984 Jul;18(3):471-81. PubMed PMID: 6383040.
Neri G.
A possible explanation for the low incidence of gonosomal aneuploidy among the offspring of
triplo-X individuals.
Am J Med Genet. 1984 Jun;18(2):357-64. PubMed PMID: 6465205.
Neri G.
Transmission of Creutzfeldt-Jakob disease.
Arch Neurol. 1984 Jun;41(6):586. PubMed PMID: 6372759.
Neri G.
Prenatal diagnosis by trophoblast sampling.
Hum Genet. 1984;68(3):273-4. PubMed PMID: 6500582.
Neri G, Serra A, Campana M, Tedeschi B.
Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy
outcome in 58 families.
Am J Med Genet. 1983 Dec;16(4):535-61. PubMed PMID: 6660248.
Neri G, Ricci R, Pelino A, Bova R, Tedeschi B, Serra A.
A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the
mother: cytogenetic and biochemical findings.
Am J Med Genet. 1983 Feb;14(2):307-14. PubMed PMID: 6220608.
Neri G, Bajer J, Bova R, Campana M, Pelino A, Serra A, Tedeschi B, Lauriola L, Marietti G, Moneta
E, et al.
[2 cases of dicentric Y chromosome].
Pathologica. 1983;75 Suppl:286-9. Italian. PubMed PMID: 6680432.
Serra A, Tedeschi B, Neri G, Sanfilippo S, Bellanova G, Campana M.
[Inv(9)(qh): a risk factor in Down's syndrome].
Pathologica. 1983;75 Suppl:243-5. Italian. PubMed PMID: 6240015.
Neri G, Tedeschi B, Sanfilippo S.
Partial inversion of the secondary constriction of chromosome 9: it exists.
Hum Genet. 1982;61(1):80-1. PubMed PMID: 7129437.
Simoni G, Fraccaro M, Arslanian A, Bacchetta M, Baccichetti C, Bignone FA, Cagiano A, Carbonara
AO, Carozzi F, Cuoco C, Bricarelli FD, Dallapiccola B, Dalprà L, Carbone LD, Ferranti G, Filippi G,
Frateschi M, Gimelli G, Gualtieri RM, Lenzini E, Micara G, Migone N, Montacuti V, Neri G, Papa R,
Pecile V, Rocchi M, Savin E, Serra A, Tenconi R, Terzoli GL, Tibiletti MG.
Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study.
Hum Genet. 1982;60(1):63-8. PubMed PMID: 7076250.
Vernole P, Neri G, Neri ME, Serra A.
Chromosomal alterations in the course of viral leukemogenesis in the rat.
Cancer Genet Cytogenet. 1981 Oct;4(2):143-55. PubMed PMID: 7332897.
Crosti N, Rigo A, Stevanato R, Bajer J, Neri G, Bova R, Serra A.
Lack of position effect on the activity of SODCu/Zn gene in subjects with 21/D and 21/G
Robertsonian translocations.
Hum Genet. 1981;57(2):203-4. PubMed PMID: 6453077.
Brahe C, Serra A.
A simple method for fusing human lymphocytes with rodent cells in monolayer by polyethylene
glycol.
Somatic Cell Genet. 1981 Jan;7(1):109-15. PubMed PMID: 7013121.
Neri G, Serra A, Bova R, Natale MT, Tedeschi B.
A balanced translocation t(4;9) (q35;q12) with a breakpoint within the heterochromatic region
of chromosome 9 in a woman with recurrent abortion.
Clin Genet. 1980 Oct;18(4):239-43. PubMed PMID: 7438505.
Neri G, Malvezzi DC, Serra A, Bova R, Pelino A, Maugiatti L.
Properties and significance of a small marker chromosome in amniotic fluid cells.
Clin Genet. 1980 Oct;18(4):253-6. PubMed PMID: 6934054.
Mastromarino P, Neri G, Serra A, Walborg EF Jr.
Role of cell surface receptor mobility in concanavalin A-induced agglutination of Novikoff
hepatoma and normal rat liver cells.
J Cell Sci. 1980 Apr;42:169-82. PubMed PMID: 7400230.
Neri G, Hayes SP, Smith HW, Capetillo S, Walborg EF Jr.
Concanavalin A and wheat germ agglutinin receptors in the ascitic fluid of rat hepatomas.
Tumori. 1979 Feb 28;65(1):9-18. PubMed PMID: 442222.
Revoltella RP, Brahe C, Procicchiani G.
Spontaneous fusion and formation of hybrids between C1300 neuroblastoma cells and lymphoid
cells in mixed cultures.
Cell Immunol. 1979 Sep 15;47(1):115-33. PubMed PMID: 228865.
Neri G, Serra A.
Italy's abortion law.
Lancet. 1978 Oct 21;2(8095):895-6. PubMed PMID: 81440.
Armato U, Andreis PG, Draghi E, Negri E, Mengato L, Neri G.
Studies on the persistence of differentiated functions in rat hepatocytes set into primary tissue
culture. II. Production of specific exportable proteins and the effect of purine cyclic nucleotides:
an immunofluorescent study.
In Vitro. 1978 Oct;14(10):838-48. PubMed PMID: 214389.
Botta I, Meo P, Giuliano MG, Bellocci M, Ritrovato R, Bellocchi R, Muller A, Neri G, Castelli L.
Behavior of a cell line derived from a mouse submaxillary adenocarcinoma during the initial
480 days in vitro.
Tumori. 1978 Feb 28;64(1):1-14. PubMed PMID: 653828.
Starling JJ, Capetillo SC, Neri G, Walborg EF Jr.
Surface properties of normal and neoplastic rat liver cells. Lectin-induced cytoagglutination
and lectin receptor activity of cell-surface glycopeptides.
Exp Cell Res. 1977 Jan;104(1):177-90. PubMed PMID: 188669.
Neri G, Giuliano MC, Capetillo S, Gilliam EB, Hixson DC, Walborg EF Jr.
Effect of neuraminidase and papain treatment on lectin-induced agglutination of Novikoff
tumor cells and assay of lectin receptor activity of the glycopeptides released from the cell
surface by papain.
Cancer Res. 1976 Jan;36(1):263-8. PubMed PMID: 174811.
Shimazaki K, Walborg EF Jr, Neri G, Jirgensons B.
Circular dichroism and saccharide-induced conformational transitions of lectins from Ricinus
communis.
Arch Biochem Biophys. 1975 Aug;169(2):731-6. PubMed PMID: 1180568.
Castelli L, Neri G, Frigola A, Di Fava FM, Giuliano MC.
Viral expression, oncogenicity, and antigenicity of a mouse salivary gland tumor and two cell
lines derived from it.
Cancer Res. 1975 Sep;35(9):2394-402. PubMed PMID: 50130.
Neri G, Smith DF, Gilliam EB, Walborg EF Jr.
Concanavalin A and wheat germ agglutinin receptor activity of sialoglycopeptides isolated from
the surface of Novikoff hepatoma cells.
Arch Biochem Biophys. 1974 Nov;165(1):323-30. PubMed PMID: 4374131.
Smith DF, Neri G, Walborg EF Jr.
Isolation and partial chemical characterization of cell-surface glycopeptides from AS-30D rat
hepatoma which possess binding sites for wheat germ agglutinin and concanavalin A.
Biochemistry. 1973 May 22;12(11):2111-8. PubMed PMID: 4350310.
Di Ferrante N, Neri G.
The action of crude alpha-amylase from Bacillus subtilis on cartilage glycosaminoglycans.
J Lab Clin Med. 1971 Jan;77(1):7-13. PubMed PMID: 4250495.
Di Ferrante N, Nichols BL, Donnelly PV, Neri G, Hrgovcic R, Berglund RK.
Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma
infusion.
Proc Natl Acad Sci U S A. 1971 Feb;68(2):303-7. PubMed PMID: 5277074; PubMed Central
PMCID: PMC388923.
Di Ferrante N, Donnelly PV, Neri G.
Metabolism of glycosaminoglycans in cultured normal and abnormal human fibroblasts.
Biochem Med. 1971 Jun;5(3):269-78. PubMed PMID: 4258516.
Neri G, Di Ferrante N, Hrgovcic R.
Measurement of plasma glycosaminoglycans: an extension of the method.
Clin Chim Acta. 1971 Dec;35(2):359-62. PubMed PMID: 4256600.
Neri G, Caputo A, Terranova T.
Purification of pyruvate kinase from Yoshida ascites tumor cells.
Life Sci II. 1970 May 8;9(9):507-10. PubMed PMID: 5452793.
Terranova T, Galeotti T, Baldi S, Neri G.
Kinetics of oxygen uptake in Ehrlich ascites tumour cells treated with rotenone and glucose.
Biochem Z. 1967 Jan 27;346(5):439-45. PubMed PMID: 6057651.