Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Syndrome and TSC1[original query] |
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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. American journal of human genetics 2001 Jan 68 (1): 64-80. Dabora S L, Jozwiak S, Franz D N, Roberts P S, Nieto A, Chung J, Choy Y S, Reeve M P, Thiele E, Egelhoff J C, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski D |
Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation. Medical science monitor : international medical journal of experimental and clinical research 2005 May 11 (5): CR230-234. Rok Paulina, Kasprzyk-Obara Jolanta, Doma?ska-Pakie?a Dorota, Jó?wiak Sergiu |
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS genetics 2015 Nov 11 (11): e1005637. Tyburczy Magdalena E, Dies Kira A, Glass Jennifer, Camposano Susana, Chekaluk Yvonne, Thorner Aaron R, Lin Ling, Krueger Darcy, Franz David N, Thiele Elizabeth A, Sahin Mustafa, Kwiatkowski David |
Association of ATG5 Gene Polymorphisms With Behçet's Disease and ATG10 Gene Polymorphisms With VKH Syndrome in a Chinese Han Population. Investigative ophthalmology & visual science 2015 Dec 56 (13): 8280-7. Zheng Minming, Yu Hongsong, Zhang Lijun, Li Hua, Liu Yunjia, Kijlstra Aize, Yang Peize |
Identification of rs7350481 at chromosome 11q23.3 as a novel susceptibility locus for metabolic syndrome in Japanese individuals by an exome-wide association study. Oncotarget 2017 Apr . Yamada Yoshiji, Sakuma Jun, Takeuchi Ichiro, Yasukochi Yoshiki, Kato Kimihiko, Oguri Mitsutoshi, Fujimaki Tetsuo, Horibe Hideki, Muramatsu Masaaki, Sawabe Motoji, Fujiwara Yoshinori, Taniguchi Yu, Obuchi Shuichi, Kawai Hisashi, Shinkai Shoji, Mori Seijiro, Arai Tomio, Tanaka Masas |
Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 3 22 (3): 419-426. Papadopoulou Anna, Dinopoulos Argyrios, Koutsodontis George, Pons Roser, Vorgia Pelagia, Koute Vasiliki, Vratimos Athanassios, Zafeiriou Dimitri |
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou P, He N, Zhang J-W, Lin Z-J, Wang J, Yan L-M, Meng H, Tang B, Li B-M, Liu X-R, Shi Y-W, Zhai Q-X, Yi Y-H, Liao W |
Cancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan. Oncology 2021 12 100 (3): 163-172. Fukushima Hiroko, Suzuki Ryoko, Yamaki Yuni, Hosaka Sho, Inaba Masako, Muroi Ai, Tsurubuchi Takao, Morii Wataru, Noguchi Emiko, Takada Hidetos |
Tuberous sclerosis complex is associated with a novel human tauopathy. Acta neuropathologica 2022 12 145 (1): 1-12. Hwang Ji-Hye L, Perloff Olga S, Gaus Stephanie E, Benitez Camila, Alquezar Carolina, Cosme Celica Q, Nana Alissa L, Vatsavayai Sarat C, Ramos Eliana M, Geschwind Daniel H, Miller Bruce L, Kao Aimee W, Seeley William |
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- Page last updated:Apr 16, 2024
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