Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Mental Retardation and SYNGAP1[original query] |
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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. The New England journal of medicine 2009 Feb 360 (6): 599-605. Hamdan Fadi F, Gauthier Julie, Spiegelman Dan, Noreau Anne, Yang Yan, Pellerin Stéphanie, Dobrzeniecka Sylvia, Côté Mélanie, Perreau-Linck Elizabeth, Perreault-Linck Elizabeth, Carmant Lionel, D'Anjou Guy, Fombonne Eric, Addington Anjene M, Rapoport Judith L, Delisi Lynn E, Krebs Marie-Odile, Mouaffak Faycal, Joober Ridha, Mottron Laurent, Drapeau Pierre, Marineau Claude, Lafrenière Ronald G, Lacaille Jean Claude, Rouleau Guy A, Michaud Jacques L, |
[De novo mutations in SYNGAP1 associated with non-syndromic mental retardation]. Médecine sciences : M/S 2010 Feb 26 (2): 133-5. Hamdan Fadi F, Gauthier Julie, Rouleau Guy A, Michaud Jacques |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (London, England) 2012 Nov 380 (9854): 1674-82. Rauch Anita, Wieczorek Dagmar, Graf Elisabeth, Wieland Thomas, Endele Sabine, Schwarzmayr Thomas, Albrecht Beate, Bartholdi Deborah, Beygo Jasmin, Di Donato Nataliya, Dufke Andreas, Cremer Kirsten, Hempel Maja, Horn Denise, Hoyer Juliane, Joset Pascal, Röpke Albrecht, Moog Ute, Riess Angelika, Thiel Christian T, Tzschach Andreas, Wiesener Antje, Wohlleber Eva, Zweier Christiane, Ekici Arif B, Zink Alexander M, Rump Andreas, Meisinger Christa, Grallert Harald, Sticht Heinrich, Schenck Annette, Engels Hartmut, Rappold Gudrun, Schröck Evelin, Wieacker Peter, Riess Olaf, Meitinger Thomas, Reis André, Strom Tim |
Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient. Fetal and pediatric pathology 2018 12 37 (6): 400-403. Pei Yuanyuan, Li Wei, Du Li, Wei Fengxia |
Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations. Frontiers in genetics 2022 12 13 957915. Wang Yanxin, Lv Yuqiang, Li Zilong, Gao Min, Yang Xiaomeng, Li Yue, Shi Jianguo, Gao Zaifen, Liu Yi, Gai Zhongt |
[A case of mental retardation caused by a frameshift variant of SYNGAP1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 40 (1): 57-61. Shen Yue, Luo Guanjun, Lu Chao, Tan Yuan, Cheng Tingting, Qian Xuguang, Li Nuo, Luo Minna, Cao Zongfu, Ma Xu, Zhao Yo |
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