FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference28 articles.
1. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome;Crisponi;Nat. Genet.,2001
2. Spectrum of FOXL2 gene mutations in blepharophimosis–ptosis–epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation;De Baere;Hum. Mol. Genet.,2001
3. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype–phenotype correlation;De Baere;Am. J. Hum. Genet.,2001
4. Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families;Ramirez-Castro;Am. J. Med. Genet.,2002
5. FOXL2-mutations in blepharophimosis–ptosis–epicanthus inversus syndrome (BPES): challenges for genetic counseling in female patients;Fokstuen;Am. J. Med. Genet.,2003
Cited by 48 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 of a Goat Intersexuality-Associated Novel Variant Through Genome-Wide Resequencing and Hi-C;Frontiers in Genetics;2021-02-09
2. Long-Range Regulation of Key Sex Determination Genes;Sexual Development;2021
3. Lymphedema distichiasis syndrome may be caused by FOXC2 promoter‐enhancer dissociation and disruption of a topological associated domain;American Journal of Medical Genetics Part A;2020-10-27
4. Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature;Molecular Syndromology;2019
5. Transgenic Mouse Models in the Study of Ovarian Function;The Ovary;2019
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