Lack of mutation-histopathology correlation in a patient with Proteus syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Lack of mutation-histopathology correlation in a patient with Proteus syndrome

Published:2016-04-26 Issue:6 Volume:170 Page:1422-1432
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Doucet Meggie E.¹,Bloomhardt Hadley M.²³,Moroz Krzysztof¹,Lindhurst Marjorie J.²,Biesecker Leslie G.²

Affiliation:

1. Department of Pathology and Laboratory Medicine; Tulane University School of Medicine; New Orleans Louisiana

2. Medical Genomics and Metabolic Genetics Branch; National Human Genome Research Institute; Bethesda Maryland

3. Yale School of Medicine; New Haven Connecticut

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference13 articles.

1. The multifaceted challenges of Proteus syndrome;Biesecker;JAMA,2001

2. The challenges of Proteus syndrome: Diagnosis and management;Biesecker;Eur J Hum Genet,2006

3. A genomic view of mosaicism and human disease;Biesecker;Nat Rev Genet,2013

4. Neoplasms in Proteus syndrome;Gordon;Am J Med Genet,1995

Cited by 22 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. Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities;Clinical Genetics;2024-02-20

2. Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism;European Journal of Medical Genetics;2023-02

3. Localized heterochrony integrates overgrowth potential of oncogenic clones;Disease Models & Mechanisms;2023-02-01

4. PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma;Journal of Investigative Dermatology;2022-12

5. Localized heterochrony integrates overgrowth potential of oncogenic clones;2022-07-17

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