A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Published:2010-07 Issue:7 Volume:12 Page:431-439
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Marini Monica,Bocciardi Renata,Gimelli Stefania,Di Duca Marco,Divizia Maria T.,Baban Anwar,Gaspar Harald,Mammi Isabella,Garavelli Livia,Cerone Roberto,Emma Francesco,Bedeschi Maria F.,Tenconi Romano,Sensi Alberto,Salmaggi Andrea,Bengala Mario,Mari Francesca,Colussi Gianluca,Szczaluba Krzysztof,Antonarakis Stylianos E.,Seri Marco,Lerone Margherita,Ravazzolo Roberto

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference16 articles.

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. A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B;Annals of Laboratory Medicine;2024-07-23

2. ST-segment elevation myocardial infarction in Nail–Patella syndrome with anomalous coronary anatomy and aneurysms: a case report;European Heart Journal - Case Reports;2024-04-18

3. Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report;Cureus;2023-11-17

4. Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up;Frontiers in Endocrinology;2022-06-13

5. Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations;Cell;2021-09

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