16p subtelomeric duplication: a clinically recognizable syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

16p subtelomeric duplication: a clinically recognizable syndrome

Published:2009-03-18 Issue:9 Volume:17 Page:1135-1140
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Digilio Maria Cristina,Bernardini Laura,Capalbo Anna,Capolino Rossella,Gagliardi Maria Giulia,Marino Bruno,Novelli Antonio,Dallapiccola Bruno

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg200914.pdf

Reference16 articles.

1. Leonard C, Huret JL, Imbert MC, Lebouc Y, Selva J, Boulley AM : Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature. Am J Med Genet 1992; 43: 621–625.

2. O'Connor TA, Higgins RR : Trisomy 16p in a liveborn infant and review of trisomy 16p. Am J Med Genet 1992; 42: 316–319.

3. Schinzel A, Kotzot D, Brecevic L et al: Trisomy first, translocation second, umiparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy. Eur J Hum Genet 1997; 5: 308–314.

4. Juan JLC, Cigudosa JC, Gomez AO, Almeida MTA, Miranda LG : De novo trisomy 16p. Am J Med Genet 1997; 68: 219–221.

5. Movahhedian HR, Kashani DS, Bull D, Jones KL, Rothman A : Pulmonary hypertension and trisomy 16. Pediatr Cardiol 1998; 19: 187–189.

Cited by 21 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. Global developmental delay and a de novo deletion of the 16p13.13 region;BMJ Case Reports;2024-02

2. Parental balanced chromosomal rearrangement leading to major genomic imbalance and an autosomal trisomy resulting in consecutive pregnancy loss: a case report;Journal of Genetics;2021-07-23

3. An Indian infant with de novo duplication of 16p chromosome: A rare genetic syndrome;Indian Journal of Medical Sciences;2020-12-22

4. De novo 16p13.3-p12.3 duplication in a child with syndromic developmental delay;Gene Reports;2020-09

5. 9q34 & 16p13 chromosome duplications in autism;AME Case Reports;2020-07

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

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