Human Genome Epidemiology Literature Finder
Records 1 - 27 (of 27 Records) |
Query Trace: Epilepsy and TSC1[original query] |
---|
[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 |
Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. Neurology 2009 Mar 72 (13): 1165-9. Chu-Shore Catherine J, Major Philippe, Montenegro Maria, Thiele Elizabe |
Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. Epilepsia 2009 Jun 50 (6): 1396-408. Gumbinger Christoph, Rohsbach Constantin B, Schulze-Bonhage Andreas, Korinthenberg Rudolf, Zentner Josef, Häffner Monika, Fauser Susan |
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 |
Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings. Ophthalmology 2012 Sep 119 (9): 1917-23. Aronow Mary E, Nakagawa Jo Anne, Gupta Ajay, Traboulsi Elias I, Singh Arun |
[Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype]. Anales de pediatría (Barcelona, Spain : 2003) 2014 Nov 81 (5): 289-96. Monteiro T, Garrido C, Pina S, Chorão R, Carrilho I, Figueiroa S, Santos M, Temudo |
Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia 2014 Jul 55 (7): 1025-9. Kothare Sanjeev V, Singh Kanwaljit, Chalifoux Jason R, Staley Brigid A, Weiner Howard L, Menzer Kimberly, Devinsky Orr |
[Efficacy and safety of rapamycin in treatment of children with epilepsy complicated with tuberous sclerosis]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2015 1 52 (11): 812-6. Zou Liping, Liu Yujie, Pang Lingyu, Ju Jun, Shi Zening, Zhang Junsi, Chen Xiaoqiao, Su Xiaojun, Hu Linyan, Shi Xiuyu, Yang Xiaof |
Correlation between TSC1 gene polymorphism and epilepsy. Experimental and therapeutic medicine 2017 12 14 (6): 6238-6242. Jiang Xiuli, Chen Jiajia, Song Quanjiang, Wang Weiling, Zhang Guangyan, Li |
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 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 |
Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes. Seizure 2019 9 71 322-327. Lin Shan, Zeng Jia-Bin, Zhao Gui-Xian, Yang Zhen-Zhen, Huang Hui-Ping, Lin Min-Ting, Wu Zhi-Ying, Wang Ning, Chen Wan-Jin, Fang Li |
Precise detection of low-level somatic mutation in resected epilepsy brain tissue. Acta neuropathologica 2019 Aug . Sim Nam Suk, Ko Ara, Kim Woo Kyeong, Kim Se Hoon, Kim Ju Seong, Shim Kyu-Won, Aronica Eleonora, Mijnsbergen Caroline, Spliet Wim G M, Koh Hyun Yong, Kim Heung Dong, Lee Joon Soo, Kim Dong Seok, Kang Hoon-Chul, Lee Jeong |
Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report. Medicine 2020 9 99 (35): e21949. Chen Lin, Jiang Yu, Wang Ji |
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genetics in medicine : official journal of the American College of Medical Genetics 2020 5 22 (9): 1489-1497. Ogórek Barbara, Hamieh Lana, Hulshof Hanna M, Lasseter Kathryn, Klonowska Katarzyna, Kuijf Hugo, Moavero Romina, Hertzberg Christoph, Weschke Bernhard, Riney Kate, Feucht Martha, Scholl Theresa, Krsek Pavel, Nabbout Rima, Jansen Anna C, Benova Barbora, Aronica Eleonora, Lagae Lieven, Curatolo Paolo, Borkowska Julita, Sadowski Krzysztof, Doma?ska-Pakie?a Dorota, Janson Stef, Kozlowski Piotr, Urbanska Malgorzata, Jaworski Jacek, Jozwiak Sergiusz, Jansen Floor E, Kotulska Katarzyna, , Kwiatkowski David |
Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study. Pediatric neurology 2020 3 106 10-16. Gupta Ajay, de Bruyn Gwendolyn, Tousseyn Simon, Krishnan Balu, Lagae Lieven, Agarwal Nitin, |
Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study. Frontiers in genetics 2020 3 11 204. Ding Yifeng, Wang Ji, Zhou Shuizhen, Zhou Yuanfeng, Zhang Linmei, Yu Lifei, Wang |
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 |
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 |
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. Brain communications 2021 3 3 (1): fcaa235. Ye Zimeng, Chatterton Zac, Pflueger Jahnvi, Damiano John A, McQuillan Lara, Harvey Anthony Simon, Malone Stephen, Do Hongdo, Maixner Wirginia, Schneider Amy, Nolan Bernadette, Wood Martin, Lee Wei Shern, Gillies Greta, Pope Kate, Wilson Michael, Lockhart Paul J, Dobrovic Alexander, Scheffer Ingrid E, Bahlo Melanie, Leventer Richard J, Lister Ryan, Berkovic Samuel F, Hildebrand Michael |
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 |
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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: