Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

Published:2015-05-06 Issue:8 Volume:23 Page:1042-1050
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Lindahl Katarina,Åström Eva,Rubin Carl-Johan,Grigelioniene Giedre,Malmgren Barbro,Ljunggren Östen,Kindmark Andreas

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201581.pdf

Reference33 articles.

1. Barnes AM, Chang W, Morello R et al: Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006; 355: 2757–2764.

2. Baldridge D, Schwarze U, Morello R et al: CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat 2008; 29: 1435–1442.

3. van Dijk FS, Nesbitt IM, Zwikstra EH et al: PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 2009; 85: 521–527.

4. Christiansen HE, Schwarze U, Pyott SM et al: Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet 2010; 86: 389–398.

5. Alanay Y, Avaygan H, Camacho N et al: Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2010; 86: 551–559.

Cited by 129 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. Osteogenesis Imperfecta: A study of the patient journey in 13 European countries;Orphanet Journal of Rare Diseases;2024-09-09

2. Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta;The Journal of Molecular Diagnostics;2024-09

3. Analyses of Osteogenesis Imperfecta in South Korea Using the Nationwide Health Insurance Service Claim Data: A Propensity Score-Matched Study;Calcified Tissue International;2024-08-16

4. The impact of foot orthoses on gait in children with Osteogenesis Imperfecta type I, III and IV – a cross-sectional study;BMC Musculoskeletal Disorders;2024-07-18

5. Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study;Journal of Bone and Mineral Research;2024-07-16

同舟云学术

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