HuGE Literature Finder
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Records 1-3
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.
European journal of medical genetics 2009 Jul . Claudia F, Fernando K, Pablo N, Chong K, Débora B, Lílian A, Koiffmann Célia P |
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
American journal of medical genetics. Part A 2005 Apr 134 (3): 247-53. Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero G B, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco E Lucci, Neri G, Pierluigi M, Bricarelli F Dagna, Grasso M, Faravelli Frances |
Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system.
European journal of endocrinology / European Federation of Endocrine Societies 2004 Sep 151 (3): 333-41. De Boer L, Van Duyvenvoorde H A, Willemstein-Van Hove E C, Hoogerbrugge C M, Van Doorn J, Maassen J A, Karperien M, Wit J |
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