Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Pitt-hopkins Syndrome[original query] |
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WNT/?-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene null. Molecular neuropsychiatry 2017 9 3 (1): 53-71. Hennig Krista M, Fass Daniel M, Zhao Wen-Ning, Sheridan Steven D, Fu Ting, Erdin Serkan, Stortchevoi Alexei, Lucente Diane, Cody Jannine D, Sweetser David, Gusella James F, Talkowski Michael E, Haggarty Stephen |
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. European journal of human genetics : EJHG 2018 Apr . Mary Laura, Piton Amélie, Schaefer Elise, Mattioli Francesca, Nourisson Elsa, Feger Claire, Redin Claire, Barth Magali, El Chehadeh Salima, Colin Estelle, Coubes Christine, Faivre Laurence, Flori Elisabeth, Geneviève David, Capri Yline, Perrin Laurence, Fabre-Teste Jennifer, Timbolschi Dana, Verloes Alain, Olaso Robert, Boland Anne, Deleuze Jean-François, Mandel Jean-Louis, Gerard Bénédicte, Giurgea Iri |
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clinical epigenetics 2020 6 12 (1): 86. Inoue Takanobu, Nakamura Akie, Iwahashi-Odano Megumi, Tanase-Nakao Kanako, Matsubara Keiko, Nishioka Junko, Maruo Yoshihiro, Hasegawa Yukihiro, Suzumura Hiroshi, Sato Seiji, Kobayashi Yoshiyuki, Murakami Nobuyuki, Nakabayashi Kazuhiko, Yamazawa Kazuki, Fuke Tomoko, Narumi Satoshi, Oka Akira, Ogata Tsutomu, Fukami Maki, Kagami Masa |
[Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (4): 459-461. Shen Xueping, Qi Fengfeng, Gu Chunji |
[Genetic analysis of a case with Pitt-Hopkins syndrome due to variant of TCF4 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 11 37 (11): 1253-1256. Ma Jian, Zhang Huawei, Zhang Kaihui, Lyu Yuqiang, Gao Min, Wang Dong, Gai Zhongtao, Liu |
[Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (5): 622-625. Yan Zhang, Lina Zeng, Li Lin, Xian Dong, Kun Lin, Huanghui Ch |
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