Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference84 articles.
1. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints;Amos-Landgraf;Am J Hum Genet,1999
2. The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region;Boccaccio;Hum Mol Genet,1999
3. The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11→q13;Buiting;Cytogenet Cell Genet,1999
4. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15;Buiting;Nat Genet,1995
5. Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. Behavioral differences among subjects with Prader-Willi syndrome and type I and type II deletions and maternal disomy. Pediatrics, in press
Cited by 184 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. Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study;Molecular Cytogenetics;2024-09-02
2. Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil;Orphanet Journal of Rare Diseases;2024-06-20
3. Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility;Translational Psychiatry;2024-06-14
4. Alteration of epidermal lipid composition as a result of deficiency in the magnesium transporter Nipal4;Journal of Lipid Research;2024-06
5. Genomics of severe and treatment‐resistant obsessive–compulsive disorder treated with deep brain stimulation: A preliminary investigation;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2024-04-22
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