Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Disease and ERCC6[original query] |
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| Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. Proceedings of the National Academy of Sciences of the United States of America 2006 Jun 103 (24): 9256-61. Tuo Jingsheng, Ning Baitang, Bojanowski Christine M, Lin Zhong-Ning, Ross Robert J, Reed George F, Shen Defen, Jiao Xiaodong, Zhou Min, Chew Emily Y, Kadlubar Fred F, Chan Chi-Ch |
| The associations between single nucleotide polymorphisms of DNA repair genes, DNA damage, and age-related cataract: Jiangsu Eye Study. Investigative ophthalmology & visual science 2013 Feb 54 (2): 1201-7. Su Shu, Yao Yong, Zhu Rongrong, Liang Congkai, Jiang Shengqun, Hu Nan, Zhou Jing, Yang Mei, Xing Qian, Guan Huaij |
| Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. Human genetics 2014 Oct 133 (10): 1311-8. Martins Sandra, Pearson Christopher E, Coutinho Paula, Provost Sylvie, Amorim António, Dubé Marie-Pierre, Sequeiros Jorge, Rouleau Guy |
| Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling. Clinical genetics 2020 6 98 (3): 251-260. Baer Sarah, Obringer Cathy, Julia Sophie, Chelly Jameleddine, Capri Yline, Gras Domitille, Baujat Geneviève, Felix Têmis Maria, Doray Berenice, Sanchez Del Pozo Jaime, Ramos Lina M, Burglen Lydie, Laugel Vincent, Calmels Nadè |
| Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries. Human mutation 2021 5 42 (8): 969-977. Forrest Iain S, Chaudhary Kumardeep, Vy Ha My T, Bafna Shantanu, Kim Soyeon, Won Hong-Hee, Loos Ruth J F, Cho Judy, Pasquale Louis R, Nadkarni Girish N, Rocheleau Ghislain, Do R |
| Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing. Journal of assisted reproduction and genetics 2021 Feb . Shen Jiandong, Qu Dianyun, Gao Yan, Sun Fangxi, Xie Jiazi, Sun Xueping, Wang Daowu, Ma Xiang, Cui Yugui, Liu Jiayin, Diao Feiya |
| Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome medicine 2022 9 14 (1): 113. Yuan Bo, Schulze Katharina V, Assia Batzir Nurit, Sinson Jefferson, Dai Hongzheng, Zhu Wenmiao, Bocanegra Francia, Fong Chin-To, Holder Jimmy, Nguyen Joanne, Schaaf Christian P, Yang Yaping, Bi Weimin, Eng Christine, Shaw Chad, Lupski James R, Liu Pengf |
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