Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Link
http://link.springer.com/content/pdf/10.1186/s13039-018-0395-z.pdf
Reference55 articles.
1. Pallister PD, et al. The pallister mosaic syndrome. Birth Defects Orig Artic Ser. 1977;13(3B):103–10.
2. Teschler-Nicola M, Killian W. Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd Ident. 1981;7(1):6–7.
3. Peltomäki P, et al. Pallister-Killian syndrome: cytogenetic and molecular studies. Clin Genet. 1987;31(6):399–405.
4. Warburton D, Anyane-Yeboa K, Francke U. Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-mosaic syndrome cases. Am J Med Genet. 1987;27(2):275–83.
5. Schinzel A. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet. 1991;28(2):122–5.
Cited by 20 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. Clinical characteristics and laboratory diagnosis of Pallister-Killian syndrome;2024-06-10
2. Human embryonic genetic mosaicism and its effects on development and disease;Nature Reviews Genetics;2024-04-11
3. Chromosomal Duplication Syndromes: A Case Series;Neurology India;2024-01
4. Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing;Journal of Assisted Reproduction and Genetics;2023-07-28
5. Pallister-Killian syndrome;Cases in Laboratory Genetics and Genomics (LGG) Practice;2023
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