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Page 1
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G. Micale L, et al. Among authors: scarano g. Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. Orphanet J Rare Dis. 2011. PMID: 21658225 Free PMC article.
CFC syndrome: report on three additional cases.
Sorge G, Di Forti F, Scarano G, Ventruto V, Zelante L, Dallapiccola B. Sorge G, et al. Among authors: scarano g. Am J Med Genet. 1989 Aug;33(4):476-8. doi: 10.1002/ajmg.1320330412. Am J Med Genet. 1989. PMID: 2596507
The Williams syndrome: an Italian collaborative study.
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. Franceschini P, et al. Among authors: scarano g. Minerva Pediatr. 1996 Oct;48(10):421-8. Minerva Pediatr. 1996. PMID: 9017917
A family with X-linked recessive fusion of metacarpals IV and V.
Lonardo F, Della Monica M, Riccardi G, Riccio I, Riccio V, Scarano G. Lonardo F, et al. Among authors: scarano g. Am J Med Genet A. 2004 Feb 1;124A(4):407-10. doi: 10.1002/ajmg.a.20382. Am J Med Genet A. 2004. PMID: 14735591
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
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. Cecconi M, et al. Among authors: scarano g. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365
190 results