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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 - 8 (of 8 Records)

Query Trace: Optic Atrophy and OPA3[original query]
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Human mutation 2009 Mar .
Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
Ophthalmology 2011 Mar 118 (3): 558-63.
Yu-Wai-Man Patrick, Shankar Suma P, Biousse Valérie, Miller Neil R, Bean Lora J H, Coffee Bradford, Hegde Madhuri, Newman Nancy
Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.
Investigative ophthalmology & visual science 2014 Oct 55 (10): 6987-95.
Chen Jieqiong, Xu Ke, Zhang Xiaohui, Jiang Feng, Liu Lijuan, Dong Bing, Ren Yanfan, Li Ya
Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.
Genetics and molecular research : GMR 2015 14 (3): 10961-72.
Jin X, Chen Y H, Liu Z, Deng Y, Li N N, Huang H, Qi M, Yi X, Zhu
Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.
Molecular vision 2017 8 23 548-560.
Gaier Eric D, Boudreault Katherine, Nakata Isao, Janessian Maria, Skidd Philip, DelBono Elizabeth, Allen Keri F, Pasquale Louis R, Place Emily, Cestari Dean M, Stacy Rebecca C, Rizzo Joseph F, Wiggs Janey
Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.
PloS one 2017 1 12 (1): e0170090.
Li Yadi, Li Jie, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Guo Xiangmi
Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.
Translational vision science & technology 2020 Jul 9 (8): 11.
Li Jian-Kang, Li Wei, Gao Feng-Juan, Qu Shou-Fang, Hu Fang-Yuan, Zhang Sheng-Hai, Li Li-Li, Wang Zi-Wei, Qiu Yong, Wang Lu-Sheng, Huang Jie, Wu Ji-Hong, Chen Fa
Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.
American journal of medical genetics. Part A 2024 8 e63846.
Monica Penon-Portmann, Kendyl Naugle, Frank Brodie, Julie Schallhorn, Paul Griggs, Joyce
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