Report of a mother and daughter with the 12q14 microdeletion syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34397/fullpdf
Reference21 articles.
1. IRAK-M is involved in the pathogenesis of early-onset persistent asthma;Balaci;Am J Hum Genet,2007
2. Smallness for gestational age interacts with high mobility group A2 gene genetic variation to modulate height;Bouatia-Naji;Eur J Endocrinol,2009
3. The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height;Buysse;Eur J Med Genet,2009
4. Centers for Disease Control Clinical Growth Charts 2000 http://www.cdc.gov/growthcharts
5. Characterization of the glutamate receptor-interacting proteins GRIP1 and GRIP2;Dong;J Neurosci,1999
Cited by 8 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. Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature;Frontiers in Genetics;2021-09-01
2. 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature;Italian Journal of Pediatrics;2020-07-28
3. 12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?;BMC Medical Genomics;2020-01-03
4. 12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature;European Journal of Medical Genetics;2018-08
5. Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature;American Journal of Medical Genetics Part A;2017-04-13
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