Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report
Author:
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
Reference13 articles.
1. Clonal X-inactivation analysis of human tumours using the human androgen receptor gene (HUMARA) polymorphism: a non-radioactive and semiquantitative strategy applicable to fresh and archival tissue
2. Familial Premature Ovarian Failure Due to an Interstitial Deletion of the Long Arm of the X Chromosome
3. An analysis of Xq deletions
4. Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis
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. Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease;Molecular Genetics & Genomic Medicine;2023-06-08
2. Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report;Journal of Genetic Medicine;2021-12-31
3. Copy Number Changes on the X Chromosome in Women with and without Highly Skewed X-Chromosome Inactivation;Cytogenetic and Genome Research;2012
4. Trisomy Xq and Xp Deletion Phenotype in a Case with Primary Amenorrhea and Mosaic 45,X/46,X,der(X) Karyotype: Case Report;Turkiye Klinikleri Journal of Medical Sciences;2011
5. Skewed X Chromosome Inactivation and Trisomic Spontaneous Abortion: No Association;The American Journal of Human Genetics;2009-08
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