First Case Report of Prader–Willi-Like Syndrome in Colombia
Author:
Funder
Universidad ICESI
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference20 articles.
1. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype;Berends;Am. J. Med. Genet,1999
2. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype;Bonaglia;Eur. J. Hum. Genet.,2008
3. Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi–like features;Bonnefond;J. Clin. Invest.,2013
4. Genetics of Prader-Willi syndrome and Prader-Will-like syndrome;Cheon;Ann. Pediatr. Endocrinol. Metab.,2016
5. Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?;Cormier-Daire;J. Med. Genet,2003
Cited by 4 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. Rare genetic forms of obesity in childhood and adolescence, a comprehensive review of their molecular mechanisms and diagnostic approach;European Journal of Pediatrics;2023-08-23
2. Research Article Genotypic and phenotypic relationship between Prader-Willi and Prader-Willi-Like syndromes;Genetics and Molecular Research;2023
3. Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion;Human Genome Variation;2022-05-17
4. The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature;Endocrine Reviews;2021-08-30
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