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190 results

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Page 1
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
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D. Ballarati L, et al. Among authors: scarano g. J Med Genet. 2007 Jan;44(1):e60. doi: 10.1136/jmg.2006.043059. J Med Genet. 2007. PMID: 17209130 Free PMC article.
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G. Lonardo F, et al. Among authors: scarano g. Eur J Med Genet. 2007 Jul-Aug;50(4):301-8. doi: 10.1016/j.ejmg.2007.04.005. Epub 2007 May 21. Eur J Med Genet. 2007. PMID: 17591464
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, Bentivegna A, Masciadri M, Domi A, Divizia MT, Sforzini C, Tarantino E, Memo L, Scarano G, Larizza L. Selicorni A, et al. Among authors: scarano g. Clin Genet. 2007 Aug;72(2):98-108. doi: 10.1111/j.1399-0004.2007.00832.x. Clin Genet. 2007. PMID: 17661813
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.
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
Russo S, Masciadri M, Gervasini C, Azzollini J, Cereda A, Zampino G, Haas O, Scarano G, Di Rocco M, Finelli P, Tenconi R, Selicorni A, Larizza L. Russo S, et al. Among authors: scarano g. Eur J Hum Genet. 2012 Jul;20(7):734-41. doi: 10.1038/ejhg.2012.7. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353942 Free PMC article.
190 results