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Gene Testing in Everyday Clinical Use: Lessons from the Bone Clinic.

作者信息

Duncan Emma L

机构信息

Department of Twin Research & Genetic Epidemiology, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London.

出版信息

J Endocr Soc. 2020 Dec 30;5(4):bvaa200. doi: 10.1210/jendso/bvaa200. eCollection 2021 Apr 1.

DOI:10.1210/jendso/bvaa200
PMID:33733017
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7946622/
Abstract
摘要

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本文引用的文献

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J Endocr Soc. 2020 Oct 7;4(12):bvaa148. doi: 10.1210/jendso/bvaa148. eCollection 2020 Dec 1.
2
Nosology and classification of genetic skeletal disorders: 2019 revision.遗传骨骼疾病的命名学和分类：2019 修订版。
Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21.
3
Towards clinical utility of polygenic risk scores.迈向多基因风险评分的临床应用。
Hum Mol Genet. 2019 Nov 21;28(R2):R133-R142. doi: 10.1093/hmg/ddz187.
4
An atlas of genetic influences on osteoporosis in humans and mice.人类和小鼠骨量疏松遗传影响图谱
Nat Genet. 2019 Feb;51(2):258-266. doi: 10.1038/s41588-018-0302-x. Epub 2018 Dec 31.
5
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.突变改变 I 型前胶原链的羧基末端前肽切割位点与独特的成骨不全表型相关。
J Bone Miner Res. 2018 Jul;33(7):1260-1271. doi: 10.1002/jbmr.3424. Epub 2018 Apr 18.
6
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
7
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.全外显子组测序是一种用于检测成骨不全症和马凡综合征中基因突变的高效、灵敏且特异的方法。
Bonekey Rep. 2013 Dec 4;2:456. doi: 10.1038/bonekey.2013.190. eCollection 2013.
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Mutations in WNT1 cause different forms of bone fragility.WNT1 基因突变可导致不同形式的骨脆弱症。
Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg.2013.02.010. Epub 2013 Mar 14.