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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 7, 2024. (Total: 234175Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Q Fever and PCDH19[original query]
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Human mutation 2011 Jan 32 (1): E1959-75.
Depienne Christel, Trouillard Oriane, Bouteiller Delphine, Gourfinkel-An Isabelle, Poirier Karine, Rivier François, Berquin Patrick, Nabbout Rima, Chaigne Denys, Steschenko Dominique, Gautier Agnès, Hoffman-Zacharska Dorota, Lannuzel Annie, Lackmy-Port-Lis Marilyn, Maurey Hélène, Dusser Anne, Bru Marie, Gilbert-Dussardier Brigitte, Roubertie Agathe, Kaminska Anna, Whalen Sandra, Mignot Cyril, Baulac Stéphanie, Lesca Gaetan, Arzimanoglou Alexis, LeGuern Er
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Epilepsia 2011 Jul 52 (7): 1251-7.
Specchio Nicola, Marini Carla, Terracciano Alessandra, Mei Davide, Trivisano Marina, Sicca Federico, Fusco Lucia, Cusmai Raffaella, Darra Francesca, Bernardina Bernardo Dalla, Bertini Enrico, Guerrini Renzo, Vigevano Federi
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
Clinical genetics 2016 Aug .
Liu Aijie, Xu Xiaojing, Yang Xiaoling, Jiang Yuwu, Yang Zhixian, Liu Xiaoyan, Wu Ye, Wu Xiru, Wei Liping, Zhang Yueh
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.
Developmental medicine and child neurology 2017 10 60 (1): 100-105.
Kurian Mary, Korff Christian M, Ranza Emmanuelle, Bernasconi Andrea, Lübbig Anja, Nangia Srishti, Ramelli Gian Paolo, Wohlrab Gabriele, Nordli Douglas R, Bast Thom
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
Epilepsia 2018 1 59 (3): 679-689.
Smith Lacey, Singhal Nilika, El Achkar Christelle M, Truglio Gessica, Rosen Sheidley Beth, Sullivan Joseph, Poduri Annapur
Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.
Seizure 2024 8 121 95-104.
Weixing Feng, Zihan Wang, Xiaohui Wang, Shuhua Chen, Xiaoyi Chen, Chunhong Chen, Jie Deng, Xiuwei Zhuo, Jing Wa
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