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Page 1
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: serra 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.
"C" trigonocephaly syndrome: two additional cases.
Camera G, Serra G, Selicorni A. Camera G, et al. Among authors: serra g. Am J Med Genet. 1990 Dec;37(4):463-4. doi: 10.1002/ajmg.1320370407. Am J Med Genet. 1990. PMID: 2260588 No abstract available.
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M. Marangi G, et al. Among authors: serra g. Am J Med Genet A. 2011 Jul;155A(7):1536-45. doi: 10.1002/ajmg.a.34070. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671391
Patau syndrome with long survival in a case of unusual mosaic trisomy 13.
Fogu G, Maserati E, Cambosu F, Moro MA, Poddie F, Soro G, Bandiera P, Serra G, Tusacciu G, Sanna G, Mazzarello V, Montella A. Fogu G, et al. Among authors: serra g. Eur J Med Genet. 2008 Jul-Aug;51(4):303-14. doi: 10.1016/j.ejmg.2008.03.004. Epub 2008 Apr 9. Eur J Med Genet. 2008. PMID: 18495567
[Mosaic trisomy 18 and thymic dysplasia].
Calvani M, D'Amelio R, Madonna V, Franchi F, Fiorilli M, Serra GB. Calvani M, et al. Among authors: serra gb. Minerva Pediatr. 1977 Jul 14;29(23):1471-9. Minerva Pediatr. 1977. PMID: 302392 Italian. No abstract available.
779 results