De novo 46,XX, dir dup (11)(q13.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1996.tb03288.x/fullpdf
Reference13 articles.
1. Partial trisomy 11q due to paternal t(11 q; 18p); further delineation of the clinical picture;France;Clin Genet,1984
2. The 11 q; 22q translocation: a European collaborative analysis of 43 cases;Fraccaro;Hum Genet,1980
3. Mapping a gene for Noonan syndrome to the long arm of chromosome 12;Jamieson;Nature Genet,1994
4. FGF-4 replaces the apical ectodermal ridge and directs outgrowth and patterning of the limb;Niswander;Cell,1993
5. Clinical and molecular characterization of patients with distal 11 q deletions;Penny;Am J Hum Genet,1995
Cited by 18 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. Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies;Molecular Syndromology;2023
2. Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies;Molecular Cytogenetics;2022-04-19
3. Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism;Taiwanese Journal of Obstetrics and Gynecology;2021-01
4. Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features;Cytogenetic and Genome Research;2019
5. Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11;American Journal of Medical Genetics Part A;2017-03-22
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