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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: merla 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.
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G. Micale L, et al. Among authors: merla g. Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24633898 Free PMC article.
DPP6 gene disruption in a family with Gilles de la Tourette syndrome.
Prontera P, Napolioni V, Ottaviani V, Rogaia D, Fusco C, Augello B, Serino D, Parisi V, Bernardini L, Merla G, Cavanna AE, Donti E. Prontera P, et al. Among authors: merla g. Neurogenetics. 2014 Oct;15(4):237-42. doi: 10.1007/s10048-014-0418-9. Epub 2014 Aug 17. Neurogenetics. 2014. PMID: 25129042
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.
Adamo A, Atashpaz S, Germain PL, Zanella M, D'Agostino G, Albertin V, Chenoweth J, Micale L, Fusco C, Unger C, Augello B, Palumbo O, Hamilton B, Carella M, Donti E, Pruneri G, Selicorni A, Biamino E, Prontera P, McKay R, Merla G, Testa G. Adamo A, et al. Among authors: merla g. Nat Genet. 2015 Feb;47(2):132-41. doi: 10.1038/ng.3169. Epub 2014 Dec 15. Nat Genet. 2015. PMID: 25501393
A novel MED12 mutation: Evidence for a fourth phenotype.
Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G. Prontera P, et al. Among authors: merla g. Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312080 Review.
159 results