Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion
Author:
Affiliation:
1. Department of Medical Genetics; Complejo Hospitalario de Navarra, IdiSNA; Navarra Institute for Health Research; Pamplona Spain
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37614/fullpdf
Reference40 articles.
1. Activation of the extracellular signal-regulated kinases 1 and 2 (ERK1/2) is needed for the TGFbeta-induced chondrogenic and osteogenic differentiation of mesenchymal stem cells;Arita;Biochem Biophys Res Commun,2011
2. 22q11.2 distal deletion: A recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome;Ben-Shachar;Am J Hum Genet,2008
3. A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population;Botto;Pediatrics,2003
4. Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1;Breckpot;Am J Med Genet Part A,2011
5. An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3Mb region in a child with obesity and aggressive behavior;D'Angelo;Am J Med Genet Part A,2007
Cited by 11 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. Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome;Genetics Research;2024-03-30
2. A NOVEL DIS TAL 22Q11.21 MICRODUPLICATION IN A 43-YEAR-OLD MALE PATIENT WITH MILD INTELLECTUAL DISABILITY, SOCIAL COGNITIVE DYSFUNCTIONS, AND ANXIETY;CLIN NEUROPSYCHIATR;2023
3. Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre;Journal of Obstetrics and Gynaecology;2022-08-23
4. Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome;The Chromosome 22q11.2 Deletion Syndrome;2022
5. Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype;Journal of Endocrinological Investigation;2021-07-13
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