Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 84 Records) |
Query Trace: Tuberous Sclerosis and TSC1[original query] |
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Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report. Medicine 2020 9 99 (35): e21949. Chen Lin, Jiang Yu, Wang Ji |
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex. Journal of human genetics 2020 9 66 (3): 227-236. Meng Yuhuan, Yu Changshun, Chen Meijun, Yu Xiaokang, Sun Mingming, Yan Hui, Zhao Weiwei, Yu Shih |
Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex. Annals of the American Thoracic Society 2020 Nov . Tian Xinlun, Glass Jennifer E, Kwiatkowski David J, Towbin Alexander J, Li Yinan, Sund Kristen L, Krueger Darcy A, Franz David N, McCormack Francis X, Gupta Nisha |
Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 10 41 (3): e363-e365. Bacci Giacomo M, Polizzi Silvio, Mari Francesco, Conti Valerio, Caputo Roberto, Guerrini Ren |
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex. European journal of medical genetics 2021 8 64 (10): 104309. B?bol-Pokora Katarzyna, Bielska Marta, Bobeff Katarzyna, Jatczak-Pawlik Izabela, Borkowska Julita, Kotulska Katarzyna, Jó?wiak Sergiusz, M?ynarski Wojciech, Treli?ska Joan |
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Orphanet journal of rare diseases 2021 Jul 16 (1): 301. Sauter Matthias, Belousova Elena, Benedik Mirjana P, Carter Tom, Cottin Vincent, Curatolo Paolo, Dahlin Maria, D'Amato Lisa, d'Augères Guillaume B, de Vries Petrus J, Ferreira José C, Feucht Martha, Fladrowski Carla, Hertzberg Christoph, Jozwiak Sergiusz, Lawson John A, Macaya Alfons, Marques Ruben, Nabbout Rima, O'Callaghan Finbar, Qin Jiong, Sander Valentin, Shah Seema, Takahashi Yukitoshi, Touraine Renaud, Youroukos Sotiris, Zonnenberg Bernard, Jansen Anna, Kingswood J Chris, |
Correlation between epilepsy and genotype: A large retrospective tuberous sclerosis complex cohort. Seizure 2021 7 91 273-277. Ding Yifeng, Zhou Yuanfeng, Yu Lifei, Zhang Linmei, Zhou Shuizhen, Wang Yi, Wang |
Normalization of Enzyme Expression and Activity Regulating Vitamin A Metabolism Increases RAR-Beta Expression and Reduces Cellular Migration and Proliferation in Diseases Caused by Tuberous Sclerosis Gene Mutations. Frontiers in oncology 2021 6 11 644592. Abdelwahab Elhusseiny Mohamed Mahmoud, Bovari-Biri Judit, Smuk Gabor, Harko Tunde, Fillinger Janos, Moldvay Judit, Krymskaya Vera P, Pongracz Judit |
The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort. Child neurology open 2021 5 8 2329048X211012817. Alsowat Daad, Whitney Robyn, Hewson Stacy, Jain Puneet, Chan Valerie, Kabir Nadia, Amburgey Kimberly, Noone Damien, Lemaire Mathieu, McCoy Blathnaid, Zak Mar |
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype. Frontiers in genetics 2021 3 11 575750. Zhang Nianyi, Wang Xiaofang, Tang Zengqi, Qiu Xiaonan, Guo Zhixuan, Huang Danqi, Xiong Hui, Guo Qi |
Everolimus in Invasive Malignant Renal Epithelioid Angiomyolipoma. Frontiers in oncology 2021 2 10 610858. Guo Gang, Gu Liangyou, Zhang |
[Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Feb 38 (2): 154-157. Huang Chao, Zhang Qin, Xue Ying, Li Hong, Wang Ti |
[Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 12 39 (1): 68-71. Liu Weiliang, Li Fang, He Zhixu, Ai Ro |
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 |
Oscillatory neural network alterations in young people with tuberous sclerosis complex and associations with co-occurring symptoms of autism spectrum disorder and attention-deficit/hyperactivity disorder. Cortex; a journal devoted to the study of the nervous system and behavior 2021 11 146 50-65. Shephard Elizabeth, McEwen Fiona S, Earnest Thomas, Friedrich Nina, Mörtl Isabelle, Liang Holan, Woodhouse Emma, , Tye Charlotte, Bolton Patrick |
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 |
Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China. Orphanet journal of rare diseases 2022 7 17 (1): 288. Luo Cong, Zhang Ye, Zhang Yu-Shi, Zhang Ming-Xin, Ning Jun, Chen Min-Feng, Li Yuan, Qi Lin, Zu Xiong-Bing, Li Yang-Le, Cai |
Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene. International journal of general medicine 2022 6 15 5247-5252. Wang Yuting, Hu SongNian, Tan XinYu, Sang Qingqing, Shi Peng, Wang Chun, Sang Daoqi |
Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations. Genetics and molecular biology 2022 5 45 (2): e20200387. Wang Wenda, Zhao Yang, Wang Xu, Wang Zhan, Cai Yi, Li Hanzhong, Zhang Yus |
Genetic analysis of 18 families with tuberous sclerosis complex. Neurogenetics 2022 5 23 (3): 223-230. Yin Kaili, Lin Nan, Lu Qiang, Jin Liri, Huang Yan, Zhou Xiangqin, Xu Kaifeng, Liu Qing, Zhang X |
The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort. BMC medicine 2022 4 20 (1): 123. Robinson Jessica, Uzun Orhan, Loh Ne Ron, Harris Isabelle Rose, Woolley Thomas E, Harwood Adrian J, Gardner Jennifer Frances, Syed Yasir Ahm |
Perinatal adversities in tuberous sclerosis complex: Determinants and neurodevelopmental outcomes. Developmental medicine and child neurology 2022 4 64 (10): 1237-1245. Zhang Alexa X D, Liang Holan, McEwen Fiona S, Tye Charlotte, Woodhouse Emma, Underwood Lisa, Shephard Elizabeth, Sheerin Fintan, , Bolton Patrick |
Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex. Human genome variation 2022 2 9 (1): 5. Muto Yoshinari, Sasaki Hitomi, Sumitomo Makoto, Inagaki Hidehito, Kato Maki, Kato Takema, Miyai Shunsuke, Kurahashi Hiroki, Shiroki Ryoic |
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 |
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex. International journal of molecular sciences 2022 10 23 (19): . Togi Sumihito, Ura Hiroki, Hatanaka Hisayo, Niida |
Prenatal diagnosis of tuberous sclerosis complex: Echocardiography, cranial magnetic resonance, and genetic testing of 40 cases with fetal cardiac tumors. Heliyon 2023 7 9 (6): e16980. Neng Jin, Yan Wu, Qing Meng, Qiong L |
Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex. Frontiers in genetics 2023 2 13 917993. Giannikou Krinio, Martin Katie R, Abdel-Azim Ahmad G, Pamir Kaila J, Hougard Thomas R, Bagwe Shefali, Tang Yan, MacKeigan Jeffrey P, Kwiatkowski David J, Henske Elizabeth P, Lam Hilaire |
Identification of genetic variants in two families with Keratoconus. BMC medical genomics 2023 11 16 (1): 299. Qinghong Lin, Xuejun Wang, Tian Han, Xingtao Zh |
Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study. Yonsei medical journal 2023 1 64 (2): 133-138. Ryu Soyoung, Kang Hoon-Chul, Lee Sung Chul, Byeon Suk Ho, Kim Sung Soo, Lee Christopher Seungk |
Case report: Response to everolimus in a patient with platinum resistant, high grade serous ovarian carcinoma with biallelic TSC2 inactivation. Frontiers in oncology 2024 4 14 1357980. Mariko Peterson, David L Kolin, Panagiotis A Konstantinopoul |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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