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Page 1
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Bentivegna A, et al. Among authors: atzeri f. BMC Med Genet. 2006 Oct 19;7:77. doi: 10.1186/1471-2350-7-77. BMC Med Genet. 2006. PMID: 17052327 Free PMC article.
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M. Zampino G, et al. Among authors: atzeri f. Hum Mutat. 2007 Mar;28(3):265-72. doi: 10.1002/humu.20431. Hum Mutat. 2007. PMID: 17054105
Audiological and vestibular findings in the Kabuki syndrome.
Barozzi S, Di Berardino F, Atzeri F, Filipponi E, Cerutti M, Selicorni A, Cesarani A. Barozzi S, et al. Among authors: atzeri f. Am J Med Genet A. 2009 Feb;149A(2):171-6. doi: 10.1002/ajmg.a.32610. Am J Med Genet A. 2009. PMID: 19161135