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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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, |
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- Page last updated:Mar 29, 2023
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