Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Mental Retardation and PTPN11[original query] |
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[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. Arquivos brasileiros de endocrinologia e metabologia 2007 Apr 51 (3): 450-6. Ferreira Lize V, Souza Silvia A L, Montenegro Luciana R, Arnhold Ivo J P, Pasqualini Titania, Heinrich Juan Jorge, Keselman Ana Claudia, Mendonça Berenice B, Jorge Alexander A |
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. American journal of medical genetics. Part A 2009 Feb 149A (2): 140-6. Cesarini Laura, Alfieri Paolo, Pantaleoni Francesca, Vasta Isabella, Cerutti Marta, Petrangeli Valentina, Mariotti Paolo, Leoni Chiara, Ricci Daniela, Vicari Stefano, Selicorni Angelo, Tartaglia Marco, Mercuri Eugenio, Zampino Giusep |
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Human mutation 2010 1 31 (3): 284-94. Kobayashi Tomoko, Aoki Yoko, Niihori Tetsuya, Cavé Hélène, Verloes Alain, Okamoto Nobuhiko, Kawame Hiroshi, Fujiwara Ikuma, Takada Fumio, Ohata Takako, Sakazume Satoru, Ando Tatsuya, Nakagawa Noriko, Lapunzina Pablo, Meneses Antonio G, Gillessen-Kaesbach Gabriele, Wieczorek Dagmar, Kurosawa Kenji, Mizuno Seiji, Ohashi Hirofumi, David Albert, Philip Nicole, Guliyeva Afag, Narumi Yoko, Kure Shigeo, Tsuchiya Shigeru, Matsubara Yoic |
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations. Indian journal of pediatrics 2016 Jun 83 (6): 517-21. Atik Tahir, Aykut Ayca, Hazan Filiz, Onay Huseyin, Goksen Damla, Darcan Sukran, Tukun Ajlan, Ozkinay Fer |
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