De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference47 articles.
1. Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation
2. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
3. 2002. Chromosomal Variation in Man Online Database. www.wiley.com/borgaonkar
4. Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?
Cited by 5 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. Targeting of retrovirus-derivedRtl8a/8breduces social response and increases apathy-like behavior associated with GABRB2 reduction;2024-08-02
2. Syndromic obesity with neurodevelopmental delay: Opportunities for targeted interventions;European Journal of Medical Genetics;2022-03
3. Transmission of a Novel Imprinting Center Deletion Associated With Prader–Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About;Frontiers in Genetics;2021-08-24
4. Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome;Annals of Pediatric Endocrinology & Metabolism;2016
5. P;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
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