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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Leber Congenital Amaurosis and CRX[original query]
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Human mutation 2001 1 17 (1): 42-51.
Sohocki M M, Daiger S P, Bowne S J, Rodriquez J A, Northrup H, Heckenlively J R, Birch D G, Mintz-Hittner H, Ruiz R S, Lewis R A, Saperstein D A, Sullivan L
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Molecular vision 2009 15 1781-7.
Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin
De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.
Ophthalmic genetics 2015 Mar 36 (1): 21-6.
Zou Xuan, Yao Fengxia, Liang Xiaofang, Xu Fei, Li Hui, Sui Ruifang, Dong Fangti
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
Molecular vision 2017 10 23 649-659.
Han Jinu, Rim John Hoon, Hwang In Sik, Kim Jieun, Shin Saeam, Lee Seung-Tae, Choi Jong R
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Experimental eye research 2019 10 189 107846.
Yi Zhen, Xiao Xueshan, Li Shiqiang, Sun Wenmin, Zhang Qingjio
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.
American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 708-717.
Hull Sarah, Kiray Gulunay, Chiang John Pei-Wen, Vincent Andrea
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
Orphanet journal of rare diseases 2020 Dec 15 (1): 345.
Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczy?ski Maciej Robe
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Journal of applied genetics 2022 11 64 (1): 89-104.
Skorczyk-Werner Anna, Sowi?ska-Seidler Anna, Wawrocka Anna, Walczak-Sztulpa Joanna, Krawczy?ski Maciej Robe
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Genes 2023 5 14 (5): .
Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon W
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