The phenotype of recurrent 10q22q23 deletions and duplications

Author:

van Bon Bregje W M,Balciuniene Jorune,Fruhman Gary,Nagamani Sandesh Chakravarthy Sreenath,Broome Diane L,Cameron Elizabeth,Martinet Danielle,Roulet Eliane,Jacquemont Sebastien,Beckmann Jacques S,Irons Mira,Potocki Lorraine,Lee Brendan,Cheung Sau Wai,Patel Ankita,Bellini Melissa,Selicorni Angelo,Ciccone Roberto,Silengo Margherita,Vetro Annalisa,Knoers Nine V,de Leeuw Nicole,Pfundt Rolph,Wolf Barry,Jira Petr,Aradhya Swaroop,Stankiewicz Pawel,Brunner Han G,Zuffardi Orsetta,Selleck Scott B,Lupski James R,de Vries Bert B A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference75 articles.

1. Schmickel RD : Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 1986; 109: 231–241.

2. Ewart AK, Morris CA, Atkinson D et al: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993; 5: 11–16.

3. Driscoll DA, Budarf ML, Emanuel BS : A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992; 50: 924–933.

4. Bowen P, Biederman B, Hoo JJ : The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12. Ann Genet 1985; 28: 224–227.

5. Ledbetter DH, Riccardi VM, Airhart SD et al: Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 1981; 304: 325–329.

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