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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: mencarelli ma. 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.
2q24-q31 deletion: report of a case and review of the literature.
Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A. Pescucci C, et al. Among authors: mencarelli ma. Eur J Med Genet. 2007 Jan-Feb;50(1):21-32. doi: 10.1016/j.ejmg.2006.09.001. Epub 2006 Sep 17. Eur J Med Genet. 2007. PMID: 17088112 Review.
MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E, Artuso R, Mencarelli MA, D'Ambrogio T, Vonella G, Zappella M, Hayek G, Battaglia A, Mari F, Renieri A, Ariani F. Scala E, et al. Among authors: mencarelli ma. Am J Med Genet A. 2007 Dec 1;143A(23):2775-84. doi: 10.1002/ajmg.a.32002. Am J Med Genet A. 2007. PMID: 17968969
FOXG1 is responsible for the congenital variant of Rett syndrome.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A. Ariani F, et al. Among authors: mencarelli ma. Am J Hum Genet. 2008 Jul;83(1):89-93. doi: 10.1016/j.ajhg.2008.05.015. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571142 Free PMC article.
14q12 Microdeletion syndrome and congenital variant of Rett syndrome.
Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A. Mencarelli MA, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):148-52. doi: 10.1016/j.ejmg.2009.03.004. Epub 2009 Mar 19. Eur J Med Genet. 2009. PMID: 19303466
122 results