Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Mental Retardation and TSC2[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 |
| [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2003 Mar 41 (3): 223-6. Feng Jian-hua, Ding Mei-ping, Yang Cui-w |
| 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 |
| Genotype and cognitive phenotype of patients with tuberous sclerosis complex. European journal of human genetics : EJHG 2011 Dec . van Eeghen AM, Black ME, Pulsifer MB, Kwiatkowski DJ, Thiele EA |
| Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported. Journal of human genetics 2013 Feb . Niida Y, Wakisaka A, Tsuji T, Yamada H, Kuroda M, Mitani Y, Okumura A, Yokoi A |
| Epilepsy may be the major risk factor of mental retardation in children with tuberous sclerosis: A retrospective cohort study. Epilepsy & behavior : E&B 2017 10 77 13-18. Wang Yang-Yang, Pang Ling-Yu, Ma Shu-Fang, Zhang Meng-Na, Liu Li-Ying, Zou Li-Pi |
| Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work. The Journal of dermatology 2018 5 45 (7): 867-870. Zheng Li-Yun, Lee Yu-Wei, Han Yang, Tang Li-Li, Cheng Yu-Yan, Dou Jin-Fa, Zhou Fu-Sheng, Zheng Xiao-Dong, Wang Hong-Yan, Wang Pei-Guang, Gao M |
| Loss of Chromatin-Remodeling Proteins and/or CDKN2A Associates With Metastasis of Pancreatic Neuroendocrine Tumors and Reduced Patient Survival Times. Gastroenterology 2018 2 154 (8): 2060-2063.e8. Roy Somak, LaFramboise William A, Liu Ta-Chiang, Cao Dengfeng, Luvison Alyssa, Miller Caitlyn, Lyons Maureen A, O'Sullivan Roderick J, Zureikat Amer H, Hogg Melissa E, Tsung Allan, Lee Kenneth K, Bahary Nathan, Brand Randall E, Chennat Jennifer S, Fasanella Kenneth E, McGrath Kevin, Nikiforova Marina N, Papachristou Georgios I, Slivka Adam, Zeh Herbert J, Singhi Aatur |
| Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population. Journal of pediatric genetics 2021 12 10 (4): 274-283. Sudarshan Shruthi, Kumar Atin, Gupta Arun, Bhari Neetu, Sethuraman Gomathy, Kaushal Tanuja, Pradhan Ankita, Sapra Savita, Gupta Neerja, Kaur Punit, Gulati Sheffali, Chakrawarty Biswaroop, Danda Sumita, Bhatt Meenakshi, Kapoor Seema, Girisha Katta M, Sankhyan Naveen, Kabra Madhulika, Chowdhury Madhumita R |
| Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex. European journal of medical genetics 2022 8 65 (10): 104573. Ng Samuel Yl, Luk Ho-Ming, Hau Edgar Wl, Cheng Shirley Sw, Yu Kris Pt, Ho Stephanie, Mok Myth Ts, Lo Ivan |
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