Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 56 Records) |
Query Trace: OPA1[original query] |
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Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms. Acta ophthalmologica 2015 Oct . Widgren Paula, Hurme Anri, Falck Aura, Keski-Filppula Riikka, Remes Anne M, Moilanen Jukka, Majamaa Kari, Kervinen Marko, Uusimaa Johan |
Polymorphism Analysis of GSTM1 and OPA1 Genes in Greek Patients with Primary Open-angle Glaucoma. In vivo (Athens, Greece) 0 30 (4): 473-477. Lavaris Anastasios, Gazouli Maria, Brouzas Dimitrios, Moschos Marilita |
The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy. Molecular neurobiology 2016 Feb . Zhang A-Mei, Bi Rui, Hu Qiu-Xiang, Fan Yu, Zhang Qingjiong, Yao Yong-Ga |
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes. Investigative ophthalmology & visual science 2015 Dec 56 (13): 8365-72. Sun Wenmin, Huang Li, Xu Yan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Gao Bei, Wang Panfeng, Guo Xiangming, Zhang Qingjio |
Retinal dysfunction characterizes subtypes of dominant optic atrophy. Acta ophthalmologica 2017 9 96 (2): e156-e163. Cascavilla Maria Lucia, Parisi Vincenzo, Triolo Giacinto, Ziccardi Lucia, Borrelli Enrico, Di Renzo Antonio, Balducci Nicole, Lamperti Costanza, Bianchi Marzoli Stefania, Darvizeh Fatima, Sadun Alfredo A, Carelli Valerio, Bandello Francesco, Barboni Pie |
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 |
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families. Journal of the neurological sciences 2017 11 382 29-35. Pretegiani E, Rosini F, Rufa A, Gallus G N, Cardaioli E, Da Pozzo P, Bianchi S, Serchi V, Collura M, Franceschini R, Bianchi Marzoli S, Dotti M T, Federico |
Association between Mitofusin 2 Gene Polymorphisms and Late-Onset Alzheimer's Disease in the Korean Population. Psychiatry investigation 2017 Jan 14 (1): 81-85. Kim Young Jong, Park Jin Kyung, Kang Won Sub, Kim Su Kang, Han Changsu, Na Hae Ri, Park Hae Jeong, Kim Jong Woo, Kim Young Youl, Park Moon Ho, Paik Jong-W |
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 |
Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China. Mitochondrion 2018 9 46 327-333. Guo Hong, Li Shiying, Dai Limeng, Huang Xiaoyong, Yu Tao, Yin Zhengqin, Bai Y |
Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy. Mitochondrion 2018 8 46 262-269. Ham Michelle, Han Julia, Osann Kathryn, Smith Moyra, Kimonis Virgin |
The relationship between optic atrophy 1 polymorphism and normal tension glaucoma in Taiwan. Taiwan journal of ophthalmology 2018 7 8 (2): 82-86. Chen Yan-Ting, Chen San-Ni, Liu Chin-S |
Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON. Neuro-ophthalmology (Aeolus Press) 2018 3 42 (2): 73-82. Galvez-Ruiz Alberto, Galindo-Ferreiro Alicia, Schatz Patr |
An evaluation of genetic causes and environmental risks for bilateral optic atrophy. PloS one 2019 14 (11): e0225656. Chen Andrew T, Brady Lauren, Bulman Dennis E, Sundaram Arun N E, Rodriguez Amadeo R, Margolin Edward, Waye John S, Tarnopolsky Mark |
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 |
A Common Missense Variant in OMA1 Associated with the Prognosis of Heart Failure. Cardiovascular drugs and therapy 2020 Mar . Hu Dong, Li Shiyang, Hu Senlin, Sun Yang, Xiao Lei, Li Chenze, Wang Jing, Wang Yan, Ni Li, Zhao Chunxia, Wang Dao W |
Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant. Journal francais d'ophtalmologie 2020 1 43 (3): e107-e108. Mozo-Cuadrado M, Tabuenca-Del Barrio L, Belzunce-Manterola A, Rodríguez-Ulecia I, Morales Garófalo L |
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry. Ophthalmic genetics 2021 Aug 1-6. Milanowski Piotr, Kosior-Jarecka Ewa, ?ukasik Urszula, Wróbel-Dudzi?ska Dominika, Milanowska Joanna, Khor Chiea Chuen, Aung Tin, Kocki Janusz, ?arnowski Toma |
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy. Brain communications 2021 5 3 (2): fcab063. Charif Majida, Gueguen Naïg, Ferré Marc, Elkarhat Zouhair, Khiati Salim, LeMao Morgane, Chevrollier Arnaud, Desquiret-Dumas Valerie, Goudenège David, Bris Céline, Kane Selma, Alban Jennifer, Chupin Stéphanie, Wetterwald Céline, Caporali Leonardo, Tagliavini Francesca, LaMorgia Chiara, Carbonelli Michele, Jurkute Neringa, Barakat Abdelhamid, Gohier Philippe, Verny Christophe, Barth Magalie, Procaccio Vincent, Bonneau Dominique, Zanlonghi Xavier, Meunier Isabelle, Weisschuh Nicole, Schimpf-Linzenbold Simone, Tonagel Felix, Kellner Ulrich, Yu-Wai-Man Patrick, Carelli Valerio, Wissinger Bernd, Amati-Bonneau Patrizia, Reynier Pascal, , Lenaers G |
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants. Molecular genetics and genomics : MGG 2021 4 296 (4): 845-862. Xu Xingyu, Wang Panfeng, Jia Xiaoyun, Sun Wenmin, Li Shiqiang, Xiao Xueshan, Hejtmancik J Fielding, Zhang Qingjio |
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption. Molecular therapy. Nucleic acids 2021 12 26 1186-1197. Jüschke Christoph, Klopstock Thomas, Catarino Claudia B, Owczarek-Lipska Marta, Wissinger Bernd, Neidhardt Jo |
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
Multiple Cases of Auditory Neuropathy Illuminate the Importance of Subcortical Neural Synchrony for Speech-in-noise Recognition and the Frequency-following Response. Ear and hearing 2021 10 43 (2): 605-619. White-Schwoch Travis, Anderson Samira, Krizman Jennifer, Bonacina Silvia, Nicol Trent, Bradlow Ann R, Kraus Ni |
Mitochondrial Mutations in Ethambutol-Induced Optic Neuropathy. Frontiers in cell and developmental biology 2021 10 9 754676. Zhang Xiao-Hui, Xie Yue, Xu Quan-Gang, Cao Kai, Xu Ke, Jin Zi-Bing, Li Yang, Wei Shi-H |
Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy. Frontiers in neurology 2022 9 13 978532. Seo Yuri, Kim Tae Young, Won Dongju, Shin Saeam, Choi Jong Rak, Lee Seung-Tae, Lee Byung Joo, Lim Hyun Taek, Han Sueng-Han, Han Ji |
Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis. BMC ophthalmology 2022 7 22 (1): 322. Han Jinfeng, Li Ya, You Ya, Fan Ke, Lei |
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands. Brain : a journal of neurology 2022 11 146 (2): 455-460. Rocatcher Aude, Desquiret-Dumas Valérie, Charif Majida, Ferré Marc, Gohier Philippe, Mirebeau-Prunier Delphine, Verny Christophe, Milea Dan, Lenaers Guy, , Bonneau Dominique, Reynier Pascal, Amati-Bonneau Patriz |
Diagnostic Yield of Investigations in Symmetric Optic Neuropathy. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2023 8 . Armin Handzic, Jim S Xie, Edward A Margol |
Association between optic atrophy 1 polymorphisms and primary open angle glaucoma risk: Based on a meta-analysis. European journal of ophthalmology 2023 10 11206721231208244. Yue-Feng Liu, Xiang-Yu Luo, Zhi-Cai Zhao, Wu Zheng, Hai-Yang Lv, Wei-Min L |
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- Page last updated:Apr 22, 2024
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