The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-3-30.pdf
Reference51 articles.
1. Webb T: Inv dup (15) supernumerary marker chromosomes. J Med Genet. 1994, 31: 585-594. 10.1136/jmg.31.8.585.
2. Webb T, Hardy CA, King M, Watkiss E, Mitchell C, Cole T: A clinical, cytogenetic and molecular study of ten probands with inv dup (15) marker chromosomes. Clin Genet. 1998, 53: 34-43. 10.1034/j.1399-0004.1998.531530107.x.
3. Schinzel A, Niedrist D: Chromosome imbalances associated with epilepsy. Am J Med Genet (Semin Med Genet). 2001, 106: 119-124. 10.1002/ajmg.1576.
4. Wang NJ, Liu D, Parokonny AS, Schanen NC: High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum genet. 2004, 75: 267-281. 10.1086/422854.
5. Dennis NR, Veltman MWM, Thompson R, Craig E, Bolton PF, Thomas NS: Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. AM J Med Genet. 2006, 140A: 434-441. 10.1002/ajmg.a.31091.
Cited by 134 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. Glial expression of Drosophila UBE3A causes spontaneous seizures that can be modulated by 5-HT signaling;Neurobiology of Disease;2024-10
2. Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain;The American Journal of Human Genetics;2024-08
3. Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain;2024-05-22
4. Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism;Frontiers in Genetics;2024-04-16
5. Novel copy number variations and phenotypes of infantile epileptic spasms syndrome;Clinical Genetics;2024-03-28
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