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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 9, 2023. (Total: 223907Documents)
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Records 1 - 14 (of 14 Records)

Query Trace: Leber Congenital Amaurosis and CRB1[original query]
Mutations in the CRB1 gene cause Leber congenital amaurosis.
Archives of ophthalmology (Chicago, Ill. : 1960) 2001 Mar 119 (3): 415-20.
Lotery A J, Jacobson S G, Fishman G A, Weleber R G, Fulton A B, Namperumalsamy P, Héon E, Levin A V, Grover S, Rosenow J R, Kopp K K, Sheffield V C, Stone E
Utility of molecular testing for related retinal dystrophies.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2006 Apr 41 (2): 190-6.
Mezer Eedy, Sutherland Joanne, Goei Stephanie L, Héon Elise, Levin Alex
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
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Orphanet journal of rare diseases 2013 Feb 8 (1): 1.
Corton M, Tatu SD, Avila-Fernandez A, Vallespín E, Tapias I, Cantalapiedra D, Blanco-Kelly F, Riveiro-Alvarez R, Bernal S, García-Sandoval B, Baiget M, Ayuso C
Mutation analysis of Leber congenital amaurosis-associated genes in patients with retinitis pigmentosa.
Molecular medicine reports 2015 Mar 11 (3): 1827-32.
Shen Tao, Guan Liping, Li Shiqiang, Zhang Jianguo, Xiao Xueshan, Jiang Hui, Yang Jianhua, Guo Xiangming, Wang Jun, Zhang Qingjio
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
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.
Scientific reports 2018 May 8 (1): 8279.
Hosono Katsuhiro, Nishina Sachiko, Yokoi Tadashi, Katagiri Satoshi, Saitsu Hirotomo, Kurata Kentaro, Miyamichi Daisuke, Hikoya Akiko, Mizobuchi Kei, Nakano Tadashi, Minoshima Shinsei, Fukami Maki, Kondo Hiroyuki, Sato Miho, Hayashi Takaaki, Azuma Noriyuki, Hotta Yoshihi
Relative frequency of inherited retinal dystrophies in Brazil.
Scientific reports 2018 Oct 8 (1): 15939.
Motta Fabiana Louise, Martin Renan Paulo, Filippelli-Silva Rafael, Salles Mariana Vallim, Sallum Juliana Maria Ferr
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
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
American journal of medical genetics. Part C, Seminars in medical genetics 2020 9 184 (3): 728-752.
Sallum Juliana Maria Ferraz, Motta Fabiana Louise, Arno Gavin, Porto Fernanda Belga Ottoni, Resende Rosane Guazi, Belfort Rube
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 genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Ophthalmic genetics 2021 5 42 (4): 392-401.
Zhu Luyao, Ouyang Wangbin, Zhang Minfang, Wang Hao, Li Shiying, Meng Xiaohong, Yin Zheng Q
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
International journal of molecular sciences 2021 12 22 (23): .
Mairot Kévin, Smirnov Vasily, Bocquet Béatrice, Labesse Gilles, Arndt Carl, Defoort-Dhellemmes Sabine, Zanlonghi Xavier, Hamroun Dalil, Denis Danièle, Picot Marie-Christine, David Thierry, Grunewald Olivier, Pégart Mako, Huguet Hélèna, Roux Anne-Françoise, Kalatzis Vasiliki, Dhaenens Claire-Marie, Meunier Isabel
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
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