Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Atrophy and WFS1[original query] |
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| Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. Diabetologia 2008 Mar 51 (3): 451-7. Florez J C, Jablonski K A, McAteer J, Sandhu M S, Wareham N J, Barroso I, Franks P W, Altshuler D, Knowler W C, |
| A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a protective role against type 2 diabetes in Russian patients. The review of diabetic studies : RDS 2011 6 7 (4): 285-92. Chistiakov Dimitry A, Khodyrev Dmitry S, Smetanina Svetlana A, Bel'chikova Larisa N, Suplotova Lyudmila A, Nosikov Valery |
| WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims. Journal of human genetics 2013 Aug 58 (8): 495-500. Kytövuori Laura, Seppänen Allan, Martikainen Mika H, Moilanen Jukka S, Kamppari Seija, Särkioja Terttu, Remes Anne M, Räsänen Pirkko, Rönnemaa Tapani, Majamaa Ka |
| Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. Genetics in medicine : official journal of the American College of Medical Genetics 2013 Jul 15 (7): 497-506. de Heredia Miguel López, Clèries Ramón, Nunes Virgin |
| WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. Ophthalmology 2016 Jul . Grenier Joanna, Meunier Isabelle, Daien Vincent, Baudoin Corinne, Halloy François, Bocquet Béatrice, Blanchet Catherine, Delettre Cécile, Esmenjaud Etienne, Roubertie Agathe, Lenaers Guy, Hamel Christian |
| 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 |
| Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals. Diabetologia 2018 Jul . Bansal Vikas, Boehm Bernhard O, Darvasi Ari |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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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