Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15
Author:
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
Reference29 articles.
1. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy;Cassidy;Am J Hum Genet,1992
2. Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb;Christian;Genome Res,1998
3. Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism;Christian;Prenat Diagn,1996
4. A new genetic concept: uniparental disomy and its potential effect, isodisomy;Engel;Am J Med Genet,1980
5. Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD;EUCROMIC;Prenat Diagn,1999
Cited by 22 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. Low-level mosaic trisomy 15 at amniocentesis without uniparental disomy 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the aneuploid cell line;Taiwanese Journal of Obstetrics and Gynecology;2023-03
2. Prenatal diagnosis of a 15q11.2-q14 deletion of paternal origin associated with increased nuchal translucency, mosaicism for de novo multiple unbalanced translocations involving 15q11-q14, 5qter, 15qter, 17pter and 3qter and Prader–Willi syndrome;Taiwanese Journal of Obstetrics and Gynecology;2021-03
3. Recognizing the unique prenatal phenotype of Prader‐Willi Syndrome ( PWS ) indicates the need for a diagnostic methylation test;Prenatal Diagnosis;2020-05-21
4. Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2019-08-13
5. Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned;Molecular Medicine Reports;2019-05-15
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