Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene
Author:
Publisher
Elsevier BV
Subject
Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine
Reference11 articles.
1. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young;Fajans;N Engl J Med,2001
2. Genetic dissection and clinical features of MODY6 (NEUROD1-MODY);Horikawa;Curr Diab Rep,2019
3. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat Rev Genet,2011
4. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test;Thevenon;Clin Genet,2016
5. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis;Nambot;Genet Med,2018
Cited by 8 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. A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity‐onset diabetes of the young type 6;Journal of Diabetes;2024-09
2. Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families;Frontiers in Genetics;2024-01-11
3. Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development;Frontiers in Molecular Neuroscience;2023-04-27
4. Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options;Journal of Personalized Medicine;2022-10-25
5. Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation;Frontiers in Endocrinology;2022-06-13
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