Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-017-0393-8.pdf
Reference40 articles.
1. Jacobsen S, Sonne-Holm S, Søballe K, Gebuhr P, Lund B. Hip dysplasia and osteoarthritis: a survey of 4,151 subjects from the Osteoarthritis Substudy of the Copenhagen City Heart Study. Acta Orthop. 2005;76:149–58.
2. Feldman GJ, Parvizi J, Levenstien M, Scott K, Erickson JA, Fortina P, et al. Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family. J Bone Miner Res. 2013;28:2540–9.
3. Shi D, Dai J, Ikegawa S, Jiang Q. Genetic study on developmental dysplasia of the hip. Eur J Clin Invest. 2012;42:1121–5.
4. Cilliers HJ, Beighton P. Beukes familial hip dysplasia: an autosomal dominant entity. Am J Med Genet. 1990;36:386–90.
5. Tonnis D, Heinecke A. Acetabular and femoral anteversion: relationship with osteoarthritis of the hip. J Bone Joint Surg Am. 1999;81:1747–70.
Cited by 32 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. Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip;Frontiers in Genetics;2024-08-02
2. Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia;International Journal of Molecular Sciences;2023-10-27
3. Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip;DNA and Cell Biology;2023-10-01
4. Developmental dysplasia of the hip: A systematic review of susceptibility genes and epigenetics;Gene;2023-02
5. Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip;Molecular Genetics and Genomics;2022-12-01
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