Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Syndrome and SHANK3[original query] |
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Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development. Psychiatric genetics 2011 Aug 21 (4): 208-11. Waga Chikako, Okamoto Nobuhiko, Ondo Yumiko, Fukumura-Kato Reiko, Goto Yu-Ichi, Kohsaka Shinichi, Uchino Shig |
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. European journal of human genetics : EJHG 2013 Mar 21 (3): 310-6. Boccuto Luigi, Lauri Maria, Sarasua Sara M, Skinner Cindy D, Buccella Daniela, Dwivedi Alka, Orteschi Daniela, Collins Julianne S, Zollino Marcella, Visconti Paola, Dupont Barb, Tiziano Danilo, Schroer Richard J, Neri Giovanni, Stevenson Roger E, Gurrieri Fiorella, Schwartz Charles |
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. European journal of medical genetics 2016 Aug . Breckpot Jeroen, Vercruyssen Marieke, Weyts Eddy, Vandevoort Sean, D'Haenens Greet, Van Buggenhout Griet, Leempoels Lore, Brischoux-Boucher Elise, Van Maldergem Lionel, Renieri Alessandra, Mencarelli Maria Antonietta, D'Angelo Carla, Mericq Veronica, Hoffer Mariette J, Tauber Maithé, Castiglioni Claudia, Brison Nathalie, Vermeesch Joris R, Danckaerts Marina, Sienaert Pascal, Devriendt Koenraad, Vogels Anni |
Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders. American journal of medical genetics. Part A 2018 12 176 (12): 2668-2676. Li Ying, Jia Xiangbin, Wu Huidan, Xun Guanglei, Ou Jianjun, Zhang Qiumeng, Li Honghui, Bai Ting, Hu Zhengmao, Zou Xiaobing, Xia Kun, Guo H |
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes. Orphanet journal of rare diseases 2020 12 15 (1): 335. Xu Na, Lv Hui, Yang Tingting, Du Xiujuan, Sun Yu, Xiao Bing, Fan Yanjie, Luo Xiaomei, Zhan Yongkun, Wang Lili, Li Fei, Yu Yongg |
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Human molecular genetics 2021 9 31 (4): 625-637. Levy Tess, Foss-Feig Jennifer H, Betancur Catalina, Siper Paige M, Trelles-Thorne Maria Del Pilar, Halpern Danielle, Frank Yitzchak, Lozano Reymundo, Layton Christina, Britvan Bari, Bernstein Jonathan A, Buxbaum Joseph D, Berry-Kravis Elizabeth, Powell Craig M, Srivastava Siddharth, Sahin Mustafa, Soorya Latha, Thurm Audrey, Kolevzon Alexander, |
Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD. Genes 2021 Jun 12 (7): . Tavassoli Teresa, Layton Christina, Levy Tess, Rowe Mikaela, George-Jones Julia, Zweifach Jessica, Lurie Stacey, Buxbaum Joseph D, Kolevzon Alexander, Siper Paige |
Sleep Duration in Mouse Models of Neurodevelopmental Disorders. Brain sciences 2021 1 11 (1): . Saré Rachel Michelle, Lemons Abigail, Song Alex, Smith Carolyn Bee |
Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis. Journal of personalized medicine 2022 6 12 (6): . Huang Yu-Shu, Fang Ting-Hsuan, Kung Belle, Chen Chia-Hsia |
Phelan-McDermid syndrome: a classification system after 30 years of experience. Orphanet journal of rare diseases 2022 1 17 (1): 27. Phelan Katy, Boccuto Luigi, Powell Craig M, Boeckers Tobias M, van Ravenswaaij-Arts Conny, Rogers R Curtis, Sala Carlo, Verpelli Chiara, Thurm Audrey, Bennett William E, Winrow Christopher J, Garrison Sheldon R, Toro Roberto, Bourgeron Thom |
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- Page last updated:Apr 16, 2024
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