HuGE Literature Finder
Records 1-15
Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study.
EBioMedicine 2021 Apr 66 103309. Amanat Sana, Gallego-Martinez Alvaro, Sollini Joseph, Perez-Carpena Patricia, Espinosa-Sanchez Juan M, Aran Ismael, Soto-Varela Andres, Batuecas-Caletrio Angel, Canlon Barbara, May Patrick, Cederroth Christopher R, Lopez-Escamez Jose |
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 |
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
Genes, brain, and behavior 2018 Jan . Zhou Peng, He Na, Zhang Jing-Wen, Lin Zhi-Jian, Wang Jie, Yan Li-Min, Meng Heng, Tang Bin, Li Bing-Mei, Liu Xiao-Rong, Shi Yi-Wu, Zhai Qiong-Xiang, Yi Yong-Hong, Liao Wei-Pi |
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
Scientific reports 2017 Jan 7 40319. Wang Yimin, Du Xiaonan, Bin Rao, Yu Shanshan, Xia Zhezhi, Zheng Guo, Zhong Jianmin, Zhang Yunjian, Jiang Yong-Hui, Wang |
Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.
Pediatric neurology 2016 Jul . Segal Eric, Pedro Helio, Valdez-Gonzalez Karen, Parisotto Sarah, Gliksman Felicia, Thompson Stephen, Sabri Jomard, Fertig Ev |
Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.
Orphanet journal of rare diseases 2015 10 154. Vignoli Aglaia, La Briola Francesca, Peron Angela, Turner Katherine, Vannicola Chiara, Saccani Monica, Magnaghi Elisabetta, Scornavacca Giulia Federica, Canevini Maria Pao |
[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 |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
Epilepsy research 2013 Jan 103 (1): 83-7. van Eeghen Agnies M, Nellist Mark, van Eeghen Elmer E, Thiele Elizabeth |
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 |
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 |
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 |
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 |
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 |
[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 |
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- Page last updated:Apr 15, 2021
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