Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: SYNGAP1[original query] |
---|
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, |
Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010 Jul 466 (7304): 368-72. Pinto Dalila, Pagnamenta Alistair T, Klei Lambertus, Anney Richard, Merico Daniele, Regan Regina, Conroy Judith, Magalhaes Tiago R, Correia Catarina, Abrahams Brett S, Almeida Joana, Bacchelli Elena, Bader Gary D, Bailey Anthony J, Baird Gillian, Battaglia Agatino, Berney Tom, Bolshakova Nadia, Bölte Sven, Bolton Patrick F, Bourgeron Thomas, Brennan Sean, Brian Jessica, Bryson Susan E, Carson Andrew R, Casallo Guillermo, Casey Jillian, Chung Brian H Y, Cochrane Lynne, Corsello Christina, Crawford Emily L, Crossett Andrew, Cytrynbaum Cheryl, Dawson Geraldine, de Jonge Maretha, Delorme Richard, Drmic Irene, Duketis Eftichia, Duque Frederico, Estes Annette, Farrar Penny, Fernandez Bridget A, Folstein Susan E, Fombonne Eric, Freitag Christine M, Gilbert John, Gillberg Christopher, Glessner Joseph T, Goldberg Jeremy, Green Andrew, Green Jonathan, Guter Stephen J, Hakonarson Hakon, Heron Elizabeth A, Hill Matthew, Holt Richard, Howe Jennifer L, Hughes Gillian, Hus Vanessa, Igliozzi Roberta, Kim Cecilia, Klauck Sabine M, Kolevzon Alexander, Korvatska Olena, Kustanovich Vlad, Lajonchere Clara M, Lamb Janine A, Laskawiec Magdalena, Leboyer Marion, Le Couteur Ann, Leventhal Bennett L, Lionel Anath C, Liu Xiao-Qing, Lord Catherine, Lotspeich Linda, Lund Sabata C, Maestrini Elena, Mahoney William, Mantoulan Carine, Marshall Christian R, McConachie Helen, McDougle Christopher J, McGrath Jane, McMahon William M, Merikangas Alison, Migita Ohsuke, Minshew Nancy J, Mirza Ghazala K, Munson Jeff, Nelson Stanley F, Noakes Carolyn, Noor Abdul, Nygren Gudrun, Oliveira Guiomar, Papanikolaou Katerina, Parr Jeremy R, Parrini Barbara, Paton Tara, Pickles Andrew, Pilorge Marion, Piven Joseph, Ponting Chris P, Posey David J, Poustka Annemarie, Poustka Fritz, Prasad Aparna, Ragoussis Jiannis, Renshaw Katy, Rickaby Jessica, Roberts Wendy, Roeder Kathryn, Roge Bernadette, Rutter Michael L, Bierut Laura J, Rice John P, Salt Jeff, Sansom Katherine, Sato Daisuke, Segurado Ricardo, Sequeira Ana F, Senman Lili, Shah Naisha, Sheffield Val C, Soorya Latha, Sousa Inês, Stein Olaf, Sykes Nuala, Stoppioni Vera, Strawbridge Christina, Tancredi Raffaella, Tansey Katherine, Thiruvahindrapduram Bhooma, Thompson Ann P, Thomson Susanne, Tryfon Ana, Tsiantis John, Van Engeland Herman, Vincent John B, Volkmar Fred, Wallace Simon, Wang Kai, Wang Zhouzhi, Wassink Thomas H, Webber Caleb, Weksberg Rosanna, Wing Kirsty, Wittemeyer Kerstin, Wood Shawn, Wu Jing, Yaspan Brian L, Zurawiecki Danielle, Zwaigenbaum Lonnie, Buxbaum Joseph D, Cantor Rita M, Cook Edwin H, Coon Hilary, Cuccaro Michael L, Devlin Bernie, Ennis Sean, Gallagher Louise, Geschwind Daniel H, Gill Michael, Haines Jonathan L, Hallmayer Joachim, Miller Judith, Monaco Anthony P, Nurnberger John I, Paterson Andrew D, Pericak-Vance Margaret A, Schellenberg Gerard D, Szatmari Peter, Vicente Astrid M, Vieland Veronica J, Wijsman Ellen M, Scherer Stephen W, Sutcliffe James S, Betancur Catali |
[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 |
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biological psychiatry 2011 May 69 (9): 898-901. Hamdan Fadi F, Daoud Hussein, Piton Amélie, Gauthier Julie, Dobrzeniecka Sylvia, Krebs Marie-Odile, Joober Ridha, Lacaille Jean-Claude, Nadeau Amélie, Milunsky Jeff M, Wang Zhenyuan, Carmant Lionel, Mottron Laurent, Beauchamp Miriam H, 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 |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature genetics 2013 Jul 45 (7): 825-30. Carvill Gemma L, Heavin Sinéad B, Yendle Simone C, McMahon Jacinta M, O'Roak Brian J, Cook Joseph, Khan Adiba, Dorschner Michael O, Weaver Molly, Calvert Sophie, Malone Stephen, Wallace Geoffrey, Stanley Thorsten, Bye Ann M E, Bleasel Andrew, Howell Katherine B, Kivity Sara, Mackay Mark T, Rodriguez-Casero Victoria, Webster Richard, Korczyn Amos, Afawi Zaid, Zelnick Nathanel, Lerman-Sagie Tally, Lev Dorit, Møller Rikke S, Gill Deepak, Andrade Danielle M, Freeman Jeremy L, Sadleir Lynette G, Shendure Jay, Berkovic Samuel F, Scheffer Ingrid E, Mefford Heather |
Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. Biological psychiatry 2015 Jan 77 (2): 158-66. Warnica William, Merico Daniele, Costain Gregory, Alfred Simon E, Wei John, Marshall Christian R, Scherer Stephen W, Bassett Anne |
Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nature communications 2014 5 5595. O'Roak B J, Stessman H A, Boyle E A, Witherspoon K T, Martin B, Lee C, Vives L, Baker C, Hiatt J B, Nickerson D A, Bernier R, Shendure J, Eichler E |
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
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 |
Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies. Seizure 2019 8 71 222-228. Kim Soo Yeon, Jang Se Song, Kim Jong-Il, Kim Hunmin, Hwang Hee, Choi Ji Eun, Chae Jong-Hee, Kim Ki Joong, Lim Byung Ch |
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. PloS one 2021 16 (10): e0258766. Aguilera Cinthia, Gabau Elisabeth, Ramirez-Mallafré Ariadna, Brun-Gasca Carme, Dominguez-Carral Jana, Delgadillo Veronica, Laurie Steve, Derdak Sophia, Padilla Natàlia, de la Cruz Xavier, Capdevila Núria, Spataro Nino, Baena Neus, Guitart Miriam, Ruiz An |
Exome Evaluation of Autism-Associated Genes in Amazon American Populations. Genes 2022 2 13 (2): . da Costa Giovana E, Fernandes Giordane L, Rodrigues Juliana C G, da V B Leal Diana F, Pastana Lucas F, Pereira Esdras E B, Assumpção Paulo P, Burbano Rommel M R, Dos Santos Sidney E B, Guerreiro João F, Fernandes Marianne R, Dos Santos Ney P |
[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 |
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 |
Mapping gene by early life stress interactions on child subcortical brain structures: A genome-wide prospective study. JCPP advances 2023 2 2 (4): . Bolhuis Koen, Mulder Rosa H, de Mol Casper Louk, Defina Serena, Warrier Varun, White Tonya, Tiemeier Henning, Muetzel Ryan L, Cecil Charlotte A |
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders. EBioMedicine 2023 12 99 104928. Kuokuo Li, Jifang Xiao, Zhengbao Ling, Tengfei Luo, Jingyu Xiong, Qian Chen, Lijie Dong, Yijing Wang, Xiaomeng Wang, Zhaowei Jiang, Lu Xia, Zhen Yu, Rong Hua, Rui Guo, Dongdong Tang, Mingrong Lv, Aojie Lian, Bin Li, GuiHu Zhao, Xiaojin He, Kun Xia, Yunxia Cao, Jinchen |
Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability. Frontiers in genetics 2023 11 14 1270175. Boxuan Li, Yu Wang, Dong Hou, Zhen Song, Lihua Zhang, Na Li, Ruifang Yang, Ping S |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: