Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Optic Atrophy 1 And Deafness[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 |
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness. Annals of clinical and translational neurology 2020 12 8 (1): 247-251. Nardecchia Francesca, De Giorgi Agnese, Palombo Flavia, Fiorini Claudio, De Negri Anna M, Carelli Valerio, Caporali Leonardo, Leuzzi Vincen |
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 |
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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