Phenotype Severity and Genetic Variation at the Disease Locus: An Investigation of Nail Dysplasia in the Nail Patella Syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Phenotype Severity and Genetic Variation at the Disease Locus: An Investigation of Nail Dysplasia in the Nail Patella Syndrome

Published:2005-01 Issue:1 Volume:69 Page:1-8
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Dunston J. A.¹²,Lin S.¹²,Park J. W.²³,Malbroux M.²,McIntosh I.¹²

Affiliation:

1. Predoctoral Program in Human Genetics and Molecular Biology

2. McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA

3. Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1529-8817.2004.00133.x

Reference30 articles.

1. Hereditary onycho‐osteodysplasia (nail‐patella syndrome): A report of nine kindreds.;Beals R. K.;J Bone Joint Surg,1969

2. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus G. A.;Am J,1995

3. The glomerular basement membrane in the nail‐patella syndrome;Ben‐Bassat M.;Arch Path,1971

4. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

5. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome

Cited by 24 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. Simultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes;Pediatric Nephrology;2022-11-24

2. Maltese Allelic Variants in Corneal Dystrophy Genes in a Worldwide Setting;Molecular Diagnosis & Therapy;2022-07-07

3. Hereditary Hearing Impairment with Cutaneous Abnormalities;Genes;2020-12-30

4. Nail-patella syndrome;Pflügers Archiv - European Journal of Physiology;2017-07-05

5. Nail-Patella Syndrome;Atlas of Genetic Diagnosis and Counseling;2017

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