The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Published:2014-01 Issue:1 Volume:16 Page:92-100
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Mikhail Fady M.,Burnside Rachel D.,Rush Brooke,Ibrahim Jennifer,Godshalk Robin,Rutledge S. Lane,Robin Nathaniel H.,Descartes Maria D.,Carroll Andrew J.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201379.pdf

Reference25 articles.

Cited by 49 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. Multiplex droplet digital PCR for 22q11.2 microdeletions screening and DiGeorge syndrome diagnostics;Clinica Chimica Acta;2024-09

2. Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation;Prenatal Diagnosis;2024-04-09

3. Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome;Genes, Chromosomes and Cancer;2023-08-07

4. PCR Assay Using 22q11.2 Highly Polymorphic Markers for Exclusion of 22q Microdeletion: Technical Optimization and Application in North Africa;Advances in Genetic Polymorphisms;2023-07-28

5. Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay;American Journal of Medical Genetics Part A;2023-06-27

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