Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 35 Records) |
Query Trace: Wolfram Syndrome and WFS1[original query] |
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The wolframin His611Arg polymorphism influences medication overuse headache. Neuroscience letters 2007 Sep 424 (3): 179-84. Di Lorenzo C, Sances G, Di Lorenzo G, Rengo C, Ghiotto N, Guaschino E, Perrotta A, Santorelli F M, Grieco G S, Troisi A, Siracusano A, Pierelli F, Nappi G, Casali |
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, |
Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. Diabetologia 2008 Mar 51 (3): 458-63. Franks P W, Rolandsson O, Debenham S L, Fawcett K A, Payne F, Dina C, Froguel P, Mohlke K L, Willer C, Olsson T, Wareham N J, Hallmans G, Barroso I, Sandhu M |
Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk. Diabetes 2010 Mar 59 (3): 741-6. Fawcett Katherine A, Wheeler Eleanor, Morris Andrew P, Ricketts Sally L, Hallmans Göran, Rolandsson Olov, Daly Allan, Wasson Jon, Permutt Alan, Hattersley Andrew T, Glaser Benjamin, Franks Paul W, McCarthy Mark I, Wareham Nicholas J, Sandhu Manjinder S, Barroso In |
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 |
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes care 2011 Jul 34 (7): 1503-10. Rohayem Julia, Ehlers Christian, Wiedemann Bärbel, Holl Reinhard, Oexle Konrad, Kordonouri Olga, Salzano Giuseppina, Meissner Thomas, Burger Walter, Schober Edith, Huebner Angela, Lee-Kirsch Min Ae, |
Association of rs734312 and rs10010131 polymorphisms in WFS1 gene with type 2 diabetes mellitus: a meta-analysis. Endocrine journal 2012 Dec . Cheng S, Wu Y, Wu W, Zhang D |
A predictive model of the association between gene polymorphism and the risk of noise-induced hearing loss caused by gunfire noise. Journal of the Chinese Medical Association : JCMA 2012 Jan 75 (1): 36-9. Yuan Ben-Chih, Su Feng-Ming, Wu Wen-Tung, Liu Wen-Sheng, Chiu Kuo-Hs |
Association of aggression with a novel microRNA binding site polymorphism in the wolframin gene. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2013 Jun 162B (4): 404-12. Kovacs-Nagy Reka, Elek Zsuzsanna, Szekely Anna, Nanasi Tibor, Sasvari-Szekely Maria, Ronai Zso |
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 mutations in hearing-impaired children. International journal of audiology 2014 Jul 53 (7): 446-51. Häkli Sanna, Kytövuori Laura, Luotonen Mirja, Sorri Martti, Majamaa Ka |
Differential promoter activity by nucleotide substitution at a type 2 diabetes genome-wide association study signal upstream of the wolframin gene. Journal of diabetes 2015 Mar . Ryu Jihye, Lee Chaeyou |
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 |
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. BMC medicine 2017 12 15 (1): 213. Bansal Vikas, Gassenhuber Johann, Phillips Tierney, Oliveira Glenn, Harbaugh Rebecca, Villarasa Nikki, Topol Eric J, Seufferlein Thomas, Boehm Bernhard |
A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment. Hearing research 2017 10 355 97-101. Kytövuori Laura, Hannula Samuli, Mäki-Torkko Elina, Sorri Martti, Majamaa Ka |
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 |
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. PloS one 2018 3 13 (3): e0193359. Kobayashi Masafumi, Miyagawa Maiko, Nishio Shin-Ya, Moteki Hideaki, Fujikawa Taro, Ohyama Kenji, Sakaguchi Hirofumi, Miyanohara Ikuyo, Sugaya Akiko, Naito Yasushi, Morita Shin-Ya, Kanda Yukihiko, Takahashi Masahiro, Ishikawa Kotaro, Nagano Yuki, Tono Tetsuya, Oshikawa Chie, Kihara Chiharu, Takahashi Haruo, Noguchi Yoshihiro, Usami Shin-Ic |
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations. Pediatric research 2019 Jul . Rigoli Luciana, Aloi Concetta, Salina Alessandro, Di Bella Chiara, Salzano Giuseppina, Caruso Rosario, Mazzon Emanuela, Maghnie Mohamad, Patti Giuseppa, D'Annunzio Giuseppe, Lombardo Fortuna |
High Prevalence of a Monogenic Cause in Han Chinese Diagnosed With Type 1 Diabetes, Partly Driven by Nonsyndromic Recessive WFS1 Mutations. Diabetes 2019 Oct . Li Meihang, Wang Sihua, Xu Kuanfeng, Chen Yang, Fu Qi, Gu Yong, Shi Yun, Zhang Mei, Sun Min, Chen Heng, Han Xiuqun, Li Yangxi, Tang Zhoukai, Cai Lejing, Li Zhiqiang, Shi Yongyong, Yang Tao, Polychronakos Constant |
The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs. BMC genetics 2020 7 21 (1): 82. Koller Dora, Kubinyi Eniko, Elek Zsuzsanna, Nemeth Helga, Miklosi Adam, Sasvari-Szekely Maria, Ronai Zso |
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 |
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype. BioMed research international 2021 7 2021 6624744. Li Jinying, Xu Hongen, Sun Jianfeng, Tian Yongan, Liu Danhua, Qin Yaping, Liu Huanfei, Li Ruijun, Neng Lingling, Deng Xiaohua, Xue Binbin, Yu Changyun, Tang Wenx |
Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations. European journal of endocrinology 2021 11 186 (2): 163-170. Zhu Mingqiang, Li Yangxi, Dong Guanping, Chen Xuefeng, Huang Ke, Wu Wei, Dai Yangli, Zhang Li, Lin Hu, Wang Sihua, Polychronakos Constantin, Fu Junf |
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 |
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes. Scientific reports 2023 6 13 (1): 9127. Yating Li, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Simin Zhang, Yumin Ma, Yingying Luo, Lingli Zhou, Xiuying Zhang, Xiuting Huang, Xueying Gao, Mengdie Hu, Yufeng Li, Qian Ren, Yanai Wang, Xianghai Zhou, Xueyao Han, Linong |
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 |
High frequency of recessive WFS1 mutations among Indian children with islet antibody-negative type 1 diabetes. The Journal of clinical endocrinology and metabolism 2023 11 . Jayakrishnan C Menon, Pratibha Singh, Archana Archana, Preeti Singh, Medha Mittal, Uma Kanga, Kausik Mandal, Anju Seth, Vijayalakshmi Bhatia, Preeti Dabadghao, Siddhnath Sudhanshu, Atul Garg, Ruchira Vishwakarma, Aditya Narayan Sarangi, Shivendra Verma, Surya Kumar Singh, Eesh Bhat |
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 |
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