Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 85 Records) |
| Query Trace: Optic Atrophy 5[original query] |
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| Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome. Ophthalmic genetics 2019 8 40 (4): 359-361. Park Sung Eun, Lee Jihei Sara, Lee Seung-Tae, Kim Hye Young, Han Sueng-Han, Han Ji |
| 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 |
| Optic Neuropathy in Charcot-Marie-Tooth Disease. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 5 41 (2): 233-238. Hamedani Ali G, Wilson James A, Avery Robert A, Scherer Steven |
| SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. Parkinsonism & related disorders 2020 4 74 1-5. Bitetto Giacomo, Malaguti Maria Chiara, Ceravolo Roberto, Monfrini Edoardo, Straniero Letizia, Morini Alberto, Di Giacopo Raffaella, Frosini Daniela, Palermo Giovanni, Biella Fabio, Ronchi Dario, Duga Stefano, Taroni Franco, Corti Stefania, Comi Giacomo P, Bresolin Nereo, Giometto Bruno, Di Fonzo Aless |
| Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population. Molecular genetics and metabolism reports 2020 4 22 100548. Mardhiah M, Azize Nor Azimah Abdul, Yakob Yusnita, Affandi O, Hock Ngu Lock, Rowani M R, Habib Anasufi |
| Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 2 40 (1): 30-36. Cui Shilei, Yang Ling, Jiang Hanqiu, Peng Jingting, Shang Jun, Wang Jiawei, Zhang Xiaoj |
| Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness. Annals of clinical and translational neurology 2020 12 8 (1): 247-251. Nardecchia Francesca, De Giorgi Agnese, Palombo Flavia, Fiorini Claudio, De Negri Anna M, Carelli Valerio, Caporali Leonardo, Leuzzi Vincen |
| 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 |
| Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome. BMC endocrine disorders 2021 8 21 (1): 166. Ren Ziyu, Yi Jixiu, Zhong Min, Wang Yunting, Liu Qicong, Wang Xuan, Liu Dongfang, Ren W |
| Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease. Scientific reports 2021 Jun 11 (1): 11904. Meng Tianli, Wu Di, Luo Yi, Wu Na, Zhao Mengzhu, Shen Min, Yu Weiho |
| 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 |
| Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature. Investigative ophthalmology & visual science 2021 5 62 (6): 2. Jurkute Neringa, Shanmugarajah Priya D, Hadjivassiliou Marios, Higgs Jenny, Vojcic Miodrag, Horrocks Iain, Nadjar Yann, Touitou Valerie, Lenaers Guy, Poh Roy, Acheson James, Robson Anthony G, Raymond F Lucy, Reilly Mary M, Yu-Wai-Man Patrick, Moore Anthony T, Webster Andrew R, Arno Gavin, |
| 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 |
| Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene. Ophthalmic genetics 2021 4 42 (4): 440-445. Vandeputte Justine, Van Heetvelde Mattias, Van Cauwenbergh Caroline, Seneca Sara, De Baere Elfride, Leroy Bart P, De Zaeytijd Jul |
| 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 |
| Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management. Frontiers in cell and developmental biology 2021 10 9 749484. Wang Wenjia, Li Jin, Lan Lan, Xie Linyi, Xiong Fen, Guan Jing, Wang Hongyang, Wang Qiu |
| 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 |
| Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings. Investigative ophthalmology & visual science 2022 Sep 63 (10): 9. Zhang Xin, Xie Yue, Xu Ke, Chang Haoyu, Zhang Xiaohui, Li Ya |
| 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 |
| Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome. Ophthalmic genetics 2022 4 43 (4): 567-572. Mair Hailey, Fowler Nicholas, Papatzanaki Maria E, Sudhakar Padmaja, Maldonado Ramiro |
| Clinical and Genetic Profile of Leber's Hereditary Optic Neuropathy in a Cohort of Patients From a Tertiary Eye Care Center. Journal of pediatric ophthalmology and strabismus 2022 Feb 1-6. Bhate Manjushree, Kulkarni Sampada, Nalawade Rohan, Pujar Akhile |
| 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 |
| Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders. medRxiv : the preprint server for health sciences 2023 2 . Lee Evan M, Verma Megha, Palaniappan Nila, Pope Emiko M, Lee Sammie, Blacher Lindsey, Neerumalla Pooja, An William, Campbell Toko, Brown Cris, Hurst Stacy, Marshall Bess, Hershey Tamara, Nunes Virginia, de Heredia Miguel López, Urano Fumihi |
| Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2023 11 . Yan Liang, Lin Wan, Xinting Liu, Jing Zhang, Gang Zhu, Guang Ya |
| Spastic Paraplegia Type 7-Associated Optic Neuropathy: A Case Series. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2023 11 . Carter A Bell, Melissa W Ko, Devin D Mackay, Lulu L C D Bursztyn, Scott N Grossm |
| 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 |
| The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians. Frontiers in endocrinology 2023 10 14 1185956. Maha M Hammad, Mohamed Abu-Farha, Prashantha Hebbar, Emil Anoop, Betty Chandy, Motasem Melhem, Arshad Channanath, Fahd Al-Mulla, Thangavel Alphonse Thanaraj, Jehad Abubak |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
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