Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
Author:
Funder
Canadian Institutes of Health Research
Fonds de Recherche du Québec - Santé
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s00439-018-1950-8/fulltext.html
Reference25 articles.
1. Abdel-Salam GM, Abdel-Hamid MS, Issa M, Magdy A, El-Kotoury A, Amr K (2012) Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet A 158(6):1455–1461
2. Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, Issa MY, Effat L, Ismail S, Aglan MS, Zaki MS (2013) Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet A 161(8):1875–1881
3. Brunetti-Pierri N, De Brasi D, Ikegawa S, Camera G, Andria G, Sebastio G (2003) A new patient with Lowry–Wood syndrome with mild phenotype. Am J Med Genet A 118(1):68–70
4. Dayem Ullah AZ, Lemoine NR, Chelala C (2013) A practical guide for the functional annotation of genetic variations using SNPnexus. Brief Bioinform 14(4):437–447
5. Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S et al (2011) Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science 332(6026):240–243
Cited by 13 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. Osteodysplasia with Isolated or Contemporary Interest of Epiphysis, Metaphysis, and Vertebral Bodies;Prenatal Diagnosis of Fetal Osteopathologies;2024
2. Underdiagnosed Roifman syndrome manifested as non‐ischaemic cardiomyopathy: a case report;ESC Heart Failure;2023-09-04
3. Delineating the phenotype of RNU4ATAC‐related spliceosomopathy;American Journal of Medical Genetics Part A;2023-01-09
4. Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex;Nucleic Acids Research;2022-12-20
5. Genetic Causes, Clinical Manifestations and Diagnosis of Central Nervous System Malformations with Emphasis on Corpus Callosum;Journal of Contemporary Medical Sciences;2022-02-26
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