Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 41 Records) |
| Query Trace: Atrophy and OPA1[original query] |
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| Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. BMC medical genetics 2009 10 91. Wolf Christiane, Gramer Eugen, Müller-Myhsok Bertram, Pasutto Francesca, Reinthal Eva, Wissinger Bernd, Weisschuh Nico |
| Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma. Investigative ophthalmology & visual science 2010 Aug 51 (8): 4110-6. Fan Bao Jian, Liu Ke, Wang Dan Yi, Tham Clement C Y, Tam Pancy O S, Lam Dennis S C, Pang Chi 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 |
| Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. Molecular vision 2010 16 2760-4. Hudson Gavin, Yu-Wai-Man Patrick, Griffiths Phillip G, Caporali Leonardo, Salomao Solange S, Berezovsky Adriana, Carelli Valerio, Zeviani Massimo, Chinnery Patrick |
| Association of OPA1 polymorphisms with NTG and HTG: a meta-analysis. PloS one 2012 7 (8): e42387. Guo Yatu, Chen Xia, Zhang Hongtuan, Li Ningdong, Yang Xiong, Cheng Wenbo, Zhao Kanxi |
| Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. Molecular vision 2013 19 292-302. Chen Yabin, Jia Xiaoyun, Wang Panfeng, Xiao Xueshan, Li Shiqiang, Guo Xiangming, Zhang Qingjio |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes. Brain : a journal of neurology 2024 10 . Yuxi Zheng, Panfeng Wang, Shiqiang Li, Yuxi Long, Yi Jiang, Dongwei Guo, Xiaoyun Jia, Mengchu Liu, Yiyan Zeng, Xueshan Xiao, J Fielding Hejtmancik, Qingjiong Zhang, Wenmin S |
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