نتایج جستجو برای: wolfram syndrome

تعداد نتایج: 623455  

Journal: :European Journal of Human Genetics 2016

Journal: :Trends in Pharmacological Sciences 2019

M. Rezaeian,

  Wolfram|Alpha Computational Knowledge Engine software, despite all internet search engines, tries to provide the the best answer for a question or compute an equation in the most correct way based on the current knowledge. Therefore, given the unique characteristic of Wolfram|Alpha and its vast applications, the aim of the present article is to familiarize the biomedical scientists with...

2018
Min Li Jia Liu Huan Yi Li Xu Xiufeng Zhong Fuhua Peng

BACKGROUND Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies. CASE PRESENTATION Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON)...

2012
Tamara Hershey Heather M. Lugar Joshua S. Shimony Jerrel Rutlin Jonathan M. Koller Dana C. Perantie Alex R. Paciorkowski Sarah A. Eisenstein M. Alan Permutt

Wolfram Syndrome (WFS) is a rare autosomal recessive disease characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, deafness, and neurological dysfunction leading to death in mid-adulthood. WFS is caused by mutations in the WFS1 gene, which lead to endoplasmic reticulum (ER) stress-mediated cell death. Case studies have found widespread brain atrophy in l...

Journal: :Nippon Jibiinkoka Gakkai Kaiho 1988

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