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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 16, 2024. (Total: 231503Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Leber Congenital Amaurosis and AIPL1[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
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Archives of ophthalmology (Chicago, Ill. : 1960) 2004 Jul 122 (7): 1029-37.
Dharmaraj Sharola, Leroy Bart P, Sohocki Melanie M, Koenekoop Robert K, Perrault Isabelle, Anwar Khalid, Khaliq Shagufta, Devi R Summathi, Birch David G, De Pool Elaine, Izquierdo Natalio, Van Maldergem Lionel, Ismail Mohammad, Payne Annette M, Holder Graham E, Bhattacharya Shomi S, Bird Alan C, Kaplan Josseline, Maumenee Irene
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
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
PloS one 2012 7 (3): e32330.
Tan Mei Hong, Mackay Donna S, Cowing Jill, Tran Hoai Viet, Smith Alexander J, Wright Genevieve A, Dev-Borman Arundhati, Henderson Robert H, Moradi Phillip, Russell-Eggitt Isabelle, MacLaren Robert E, Robson Anthony G, Cheetham Michael E, Thompson Dorothy A, Webster Andrew R, Michaelides Michel, Ali Robin R, Moore Anthony
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2016 Nov 254 (11): 2227-2238.
Wang Shiyuan, Zhang Qi, Zhang Xiang, Wang Zhaoyang, Zhao Peiqu
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
The British journal of ophthalmology 2019 10 104 (7): 932-937.
Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya
Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.
PloS one 2020 9 15 (9): e0239748.
Rashid Muhammad, Qasim Muhammad, Ishaq Rafaqat, Bukhari Shazia Anwer, Sajid Zureesha, Ashfaq Usman Ali, Haque Asma, Ahmed Zubair
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