未登录 The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene Schwartz, Charles E.; Tarpey, Patrick S.; Lubs, Herbert A.; Verloes, Alain; May, Melanie M.; Risheg, Hiba; Friez, Michael J.; Futreal, P. Andrew; Edkins, Sarah; Teague, Jon; Briault, Sylvain; Skinner, Cindy; Bauer-Carlin, Astrid; Simensen, Richard J.; Joseph, Sumy M.; Jones, Julie R.; Gecz, Josef; Stratton, Michael R.; Raymond, Lucy; Stevenson, Roger E. 分享 收藏
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28 Friez, Michael J.; Jones, Julie R.; Clarkson, Katie; Lubs, Herbert; Abuelo, Dianne; Bier, Jo-Ann Blaymore; Pai, Shashidhar; Simensen, Richard; Williams, Charles; Giampietro, Philip F.; Schwartz, Charles E.; Stevenson, Roger E. 分享 收藏
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene Schwartz, CE; May, MM; Carpenter, NJ; Rogers, RC; Martin, J; Bialer, MG; Ward, J; Sanabria, J; Marsa, S; Lewis, JA; Echeverri, R; Lubs, HA; Voeller, K; Simensen, RJ; Stevenson, RE 分享 收藏
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor Ramser, J; Abidi, FE; Burckle, CA; Lenski, C; Toriello, H; Wen, GP; Lubs, HA; Engert, S; Stevenson, RE; Meindl, A; Schwartz, CE; Nguyen, G 分享 收藏
Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome Abidi, FE; Cardoso, C; Lossi, AM; Lowry, RB; Depetris, D; Mattéi, MG; Lubs, HA; Stevenson, RE; Fontes, M; Chudley, AE; Schwartz, CE 分享 收藏
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly Lenski, C; Abidi, F; Meindl, A; Gibson, A; Platzer, M; Kooy, RF; Lubs, HA; Stevenson, RE; Ramser, J; Schwartz, CE 分享 收藏
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome X连锁精胺合酶基因 (SMS) 缺陷: 第一个多胺缺乏综合征 Cason, AL; Ikeguchi, Y; Skinner, C; Wood, TC; Holden, KR; Lubs, HA; Martinez, F; Simensen, RJ; Stevenson, RE; Pegg, AE; Schwartz, CE 分享 收藏
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X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 Hahn, KA; Salomons, GS; Tackels-Horne, D; Wood, TC; Taylor, HA; Schroer, RJ; Lubs, HA; Jakobs, C; Olson, RL; Holden, KR; Stevenson, RE; Schwartz, CE 分享 收藏
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