Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 37 Records) |
| Query Trace: Disease and WFS1[original query] |
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| GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent. International journal of pediatric otorhinolaryngology 2010 Jun 74 (6): 611-8. Shan Jidong, Chobot-Rodd Janie, Castellanos Raquel, Babcock Melanie, Shanske Alan, Parikh Sanjay R, Morrow Bernice E, Samanich J |
| 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, |
| European genetic variants associated with type 2 diabetes in North African Arabs. Diabetes & metabolism 2012 Oct 38 (4): 316-23. Cauchi S, Ezzidi I, El Achhab Y, Mtiraoui N, Chaieb L, Salah D, Nejjari C, Labrune Y, Yengo L, Beury D, Vaxillaire M, Mahjoub T, Chikri M, Froguel |
| The association of genetic variants of type 2 diabetes with kidney function. Kidney international 2012 Jul 82 (2): 220-5. Franceschini Nora, Shara Nawar M, Wang Hong, Voruganti V Saroja, Laston Sandy, Haack Karin, Lee Elisa T, Best Lyle G, Maccluer Jean W, Cochran Barbara J, Dyer Thomas D, Howard Barbara V, Cole Shelley A, North Kari E, Umans Jason |
| Diabetes-associated common genetic variation and its association with GLP-1 concentrations and response to exogenous GLP-1. Diabetes 2012 Mar . Smushkin G, Sathananthan M, Sathananthan A, Dalla Man C, Micheletto F, Zinsmeister AR, Cobelli C, Vella A |
| Assessing the contribution of 38 genetic loci to the risk of type 2 diabetes in the Saudi Arabian Population. Clinical endocrinology 2014 Apr 80 (4): 532-7. Al-Daghri Nasser M, Alkharfy Khalid M, Alokail Majed S, Alenad Amal M, Al-Attas Omar S, Mohammed Abdul Khader, Sabico Shaun, Albagha Omar M |
| 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 |
| Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes. The pharmacogenomics journal 2015 Feb 15 (1): 49-54. Artuso R, Provenzano A, Mazzinghi B, Giunti L, Palazzo V, Andreucci E, Blasetti A, Chiuri R M, Gianiorio F E, Mandich P, Monami M, Mannucci E, Giglio |
| Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. Journal of translational medicine 2014 12 (1): 311. Wei Qinjun, Zhu Hongmei, Qian Xuli, Chen Zhibin, Yao Jun, Lu Yajie, Cao Xin, Xing Guangqi |
| Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing. Hormone research in pædiatrics 2015 83 (4): 242-51. Shim Ye Jee, Kim Jung Eun, Hwang Su-Kyeong, Choi Bong Seok, Choi Byung Ho, Cho Eun-Mi, Jang Kyoung Mi, Ko Cheol W |
| Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus. PloS one 0 10 (10): e0139519. Elek Zsuzsanna, Németh Nóra, Nagy Géza, Németh Helga, Somogyi Anikó, Hosszufalusi Nóra, Sasvári-Székely Mária, Rónai Zso |
| 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 |
| Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family. International journal of pediatric otorhinolaryngology 2017 8 100 1-7. Niu Zhijie, Feng Yong, Hu Zhengmao, Li Jiada, Sun Jie, Chen Hongsheng, He Chufeng, Wang Xueping, Jiang Lu, Liu Yalan, Cai Xinzhang, Wang Lili, Cai Yuxiang, Liu Xuezhong, Mei Lingy |
| 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 |
| COL4A3 Gene Variants and Diabetic Kidney Disease in MODY. Clinical journal of the American Society of Nephrology : CJASN 2018 7 13 (8): 1162-1171. Wang Yiting, Zhang Junlin, Zhao Yingwang, Wang Shanshan, Zhang Jie, Han Qianqian, Zhang Rui, Guo Ruikun, Li Hanyu, Li Li, Wang Tingli, Tang Xi, He Changzheng, Teng Geer, Gu Weiyue, Liu Fa |
| Maya gene variants related to the risk of type 2 diabetes in a family-based association study. Gene 2019 11 730 144259. Domínguez-Cruz Miriam G, Muñoz María de Lourdes, Totomoch-Serra Armando, García-Escalante María G, Burgueño Juan, Valadez-González Nina, Pinto-Escalante Doris, Díaz-Badillo Alva |
| 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 |
| Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan. PloS one 2019 1 14 (1): e0211261. Liu Wei-Hsiu, Chang Pi-Yueh, Chang Shih-Cheng, Lu Jang-Jih, Wu Che-Mi |
| Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia. Journal of diabetes investigation 2020 6 12 (1): 48-62. Ding Yu, Li Niu, Lou Dan, Zhang Qianwen, Chang Guoying, Li Juan, Li Xin, Li Qun, Huang Xiaodong, Wang Jian, Jiang Fan, Wang Xium |
| 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 |
| 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 |
| 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 |
| 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 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? |
| 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 |
| 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 |
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