Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13052-014-0076-4.pdf
Reference38 articles.
1. Wolfram DJ, Wagener HP: Diabetes mellitus and simple optic atrophy among siblings: report on four cases. Mayo Clin Proc. 1938, 13: 715-718.
2. Barrett TG, Bundey SE, Macleod AF: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995, 346: 1458-1463. 10.1016/S0140-6736(95)92473-6.
3. Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V, Vialttes B: Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram Syndrome. American J Med Genet. 2007, 143A: 1605-1612. 10.1002/ajmg.a.31809.
4. Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J, Collier D, Kirk J, Polymeropoulos M, Latif F, Barret T: Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations n WFS1. Am J Hum Genet. 1999, 65: 1279-1290. 10.1086/302609.
5. Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G: Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat. 2003, 22: 275-287. 10.1002/humu.10258.
Cited by 11 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease;Genes;2024-07-25
2. Wolfram Syndrome: A Rare Genetic disorder affecting Multiple Organ Systems;Research Journal of Pharmacology and Pharmacodynamics;2023-11-09
3. Central Diabetes Insipidus in Children as a Diagnostic Challenge;Clinical Pediatrics;2023-10-05
4. Genomics of Wolfram Syndrome 1 (WFS1);Biomolecules;2023-09-04
5. Modeling disrupted synapse formation in wolfram syndrome using hESCs-derived neural cells and cerebral organoids identifies Riluzole as a therapeutic molecule;Molecular Psychiatry;2023-02-07
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3