Terminal 3p deletions: Phenotypic variability, chromosomal non‐penetrance, or gene modification?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference17 articles.
1. American Journal of Medical Genetics 01487299 10968628 2004
2. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants;Barber;J Med Genet,2005
3. Segmental haplosufficiency: Transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences;Barber;Eur J Hum Genet,2005
4. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome;Cargile;Am J Med Genet,2002
5. FISH and array‐CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions;Dijkhuizen;Am J Med Genet Part A,2006
Cited by 27 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. Higher-order Chromatin Organization in Diseases, from Chromosomal Position Effect to Phenotype Variegation;Handbook of Epigenetics;2023
2. De novo 3p25-deletiós szindróma genotípus-fenotípus vizsgálata;Orvosi Hetilap;2022-03-20
3. Familiar del3p syndrome: The uncertainty of the prognosis. A case report;Clinical Case Reports;2021-03-09
4. Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities;American Journal of Medical Genetics Part A;2017-12
5. Higher-Order Chromatin Organization in Diseases: From Chromosomal Position Effect to Phenotype Variegation;Handbook of Epigenetics;2017
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