Human Genome Epidemiology Literature Finder
|
Records 1 - 15 (of 15 Records) |
| Query Trace: Seizures and TSC1[original query] |
|---|
| 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 |
| An Australian tuberous sclerosis cohort: are surveillance guidelines being met? Journal of paediatrics and child health 2011 Oct 47 (10): 711-6. Chopra Maya, Lawson John A, Wilson Meredith, Kennedy Sean E, Taylor Peter, Buckley Michael F, Wargon Orli, Parasivam Gayathri, Camphausen Christoph, Yates Deborah, Mowat Dav |
| [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 |
| Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. Scientific reports 2017 12 7 (1): 16697. Avgeris Socratis, Fostira Florentia, Vagena Andromachi, Ninios Yiannis, Delimitsou Angeliki, Vodicka Radek, Vrtel Radek, Youroukos Sotirios, Stravopodis Dimitrios J, Vlassi Metaxia, Astrinidis Aristotelis, Yannoukakos Drakoulis, Voutsinas Gerassimos |
| 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 |
| 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 |
| 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 Genotypes and Developmental Phenotype. Pediatric neurology 2019 Mar . Farach Laura S, Pearson Deborah A, Woodhouse John P, Schraw Jeremy M, Sahin Mustafa, Krueger Darcy A, Wu Joyce Y, Bebin Elizabeth M, Lupo Philip J, Au Kit Sing, Northrup Hope, |
| Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background. Italian journal of pediatrics 2020 3 46 (1): 36. Savini M N, Mingarelli A, Peron A, La Briola F, Cervi F, Alfano R M, Canevini M P, Vignoli |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
- Content source: