Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32479/fullpdf
Reference24 articles.
1. Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation;Cerruti Mainardi;J Med Genet,2001
2. Goldenhar and Cri-du-Chat syndromes: A contiguous gene deletion syndrome?;Choong;J Am Assoc Pediatr Ophthalmol Strab,2003
3. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features;Church;Am J Hum Genet,1995
4. Oculoauriculovertebral spectrum with 5p15.33-pter deletion;Descartes;Clin Dysmorphol,2006
5. Deletion of the short arms of a chromosome of the 4-5 group (Denver);Dyggve;Arch Dis Child,1965
Cited by 28 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. Auricular fistula: a review of its clinical manifestations, genetics, and treatments;Journal of Molecular Medicine;2023-07-17
2. Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia;Frontiers in Genetics;2021-05-17
3. Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS);International Journal of Molecular Sciences;2021-01-26
4. A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum;Human Genetics;2021-01-21
5. Epidemiological Research of Microtia Combined With Congenital Heart Disease;Journal of Craniofacial Surgery;2020-11-25
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