Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 130 Records) |
Query Trace: WFS1[original query] |
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Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience. Acta diabetologica 2021 8 58 (12): 1689-1700. Laimon Wafaa, El-Ziny Magdy, El-Hawary Amany, Elsharkawy Ashraf, Salem Nanees Abdel-Badie, Aboelenin Hadil Mohamed, Awad Mohammad Hosny, Flanagan Sarah E, De Franco Eli |
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 |
Single gene variants causing deafness in Asian Indians. Journal of genetics 2021 7 100 . Panigrahi Inusha, Kumari Divya, Anil Kumar B |
Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss. Iranian journal of otorhinolaryngology 2021 7 33 (116): 173-176. Mohammadi-Asl Javad, Saki Nader, Dehdashtiyan Masoud, Neissi Mostafa, Ghanbari Mardasi Farid |
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China. Frontiers in genetics 2021 12 637096. Cai Luhang, Liu Ya, Xu Yaping, Yang Hang, Lv Lihui, Li Yang, Chen Qiongqiong, Lin Xiaojiang, Yang Yihui, Hu Guangwei, Zheng Guofeng, Zhou Jing, Qian Qiyong, Xu Mei-Ai, Fang Jin, Ding Jianjun, Chen Wei, Gao Jio |
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 |
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
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 |
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 |
Combined effect of pancreatic lipid content and gene variants (TCF7L2, WFS1 and 11BHSD1) on B-cell function in Middle Aged Women in a Post Hoc Analysis. Diabetology & metabolic syndrome 2022 Jul 14 (1): 106. Nádasdi Ákos, Gál Viktor, Masszi Tamás, Patócs Attila, Igaz Peter, Somogyi Anikó, Firneisz Gáb |
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression. American journal of ophthalmology 2022 4 241 9-27. Majander Anna, Jurkute Neringa, Burté Florence, Brock Kristian, João Catarina, Huang Houbin, Neveu Magella M, Chan Choi Mun, Duncan Holly J, Kelly Simon, Burkitt-Wright Emma, Khoyratty Fadil, Lai Yoon Tse, Subash Mala, Chinnery Patrick F, Bitner-Glindzicz Maria, Arno Gavin, Webster Andrew R, Moore Anthony T, Michaelides Michel, Stockman Andrew, Robson Anthony G, Yu-Wai-Man Patri |
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 |
PPARG, TMEM163, UBE2E2, and WFS1 Gene Polymorphisms Are Not Significant Risk Factors for Gestational Diabetes in the Polish Population. Journal of personalized medicine 2022 Feb 12 (2): . Ustianowski Przemys?aw, Malinowski Damian, Safranow Krzysztof, Dziedziejko Violetta, Tarnowski Maciej, Pawlik Andrz |
Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing. Frontiers in neurology 2022 12 13 1026695. Sun Lianhua, Lin Zhengyu, Zhang Jifang, Shen Jiali, Wang Xiaowen, Yang J |
Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register. Diabetologia 2022 11 66 (3): 438-449. Harsunen Minna, Kettunen Jarno L T, Härkönen Taina, Dwivedi Om, Lehtovirta Mikko, Vähäsalo Paula, Veijola Riitta, Ilonen Jorma, Miettinen Päivi J, Knip Mikael, Tuomi Tiinamai |
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands. Brain : a journal of neurology 2022 11 146 (2): 455-460. Rocatcher Aude, Desquiret-Dumas Valérie, Charif Majida, Ferré Marc, Gohier Philippe, Mirebeau-Prunier Delphine, Verny Christophe, Milea Dan, Lenaers Guy, , Bonneau Dominique, Reynier Pascal, Amati-Bonneau Patriz |
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort. Endocrinology, diabetes & metabolism 2022 Oct e372. Billings Liana K, Shi Zhuqing, Resurreccion W Kyle, Wang Chi-Hsiung, Wei Jun, Pollin Toni I, Udler Miriam S, Xu Jianfe |
Next Generation Sequencing Analysis of MODY-X Patients: A Case Report Series. Journal of personalized medicine 2022 10 12 (10): . Maltoni Giulio, Franceschi Roberto, Di Natale Valeria, Al-Qaisi Randa, Greco Valentina, Bertorelli Roberto, De Sanctis Veronica, Quattrone Alessandro, Mantovani Vilma, Cauvin Vittoria, Zucchini Stefa |
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing. International ophthalmology 2023 8 . Ayberk Türky?lmaz, Ay?in Tuba Kaplan, Sibel Öskan Yalç?n, Safiye Güne? Sa?er, ?aban ?im? |
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 |
Comprehensive Analysis of Diabetes Mellitus-Related Gene Expression and Associated Prognoses in Human Lung Cancer. Current cancer drug targets 2023 5 . Jincheng Yang, Weilong Lin, Liming Shi, Ming Deng, Yu An, Juan Yang, Chengcheng Zhou, Qin Tong, Wenjing Ya |
Evaluation of Type 2 Diabetes Risk Variants (Alleles) in the Pashtun Ethnic Population of Pakistan. Journal of the ASEAN Federation of Endocrine Societies 2023 5 38 (1): 48-54. Asif Jan, Muhammad Saeed, Zakiullah, Rani Akbar, Hamayun Kh |
Novel WFS1 mutations in patients with low-to-middle frequency hearing loss. International journal of pediatric otorhinolaryngology 2023 3 167 111484. Guo Luo, Gu Xiaodong, Sun Qin, Zhang Yike, Li Huawei, Du Qia |
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 |
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. Investigative ophthalmology & visual science 2023 2 64 (2): 5. Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W |
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 |
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 2023 1 17 (1): 1. Ma Jing, Ma Xiuli, Lin Ken, Huang Rui, Bi Xianyun, Ming Cheng, Li Li, Li Xia, Li Guo, Zhao Liping, Yang Tao, Gao Yingqin, Zhang Tieso |
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene. Genes 2023 1 14 (1): . Riza Anca-Lelia, Alkhzouz Camelia, Farca? Marius, Pîrvu Andrei, Miclea Diana, Mihu? Gheorghe, Ple?ea R?zvan-Mihail, ?tefan Delia, Drodar Mihaela, Laz?r C?lin, On Behalf Of The Hint Study , On Behalf Of The Fuse Study , Ioana Mihai, Popp Ra |
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- Page last updated:Apr 22, 2024
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