Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example
Author:
Affiliation:
1. Center for Human Genetics; University Hospitals Leuven, KU Leuven; Leuven Belgium
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36209/fullpdf
Reference46 articles.
1. 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features;Abdelmoity;J Dev Behav Pediatr,2012
2. Genetic disorders in children and young adults: A population study;Baird;Am J Hum Genet,1988
3. Prenatal counseling and the detection of copy-number variants;Benn;Genet Med,2013
4. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome;Bittel;Pediatrics,2006
5. The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1;Botzolakis;Mol Cell Neurosci,2011
Cited by 50 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. A critical review of the impact of candidate copy number variants on autism spectrum disorder;Mutation Research - Reviews in Mutation Research;2024-07
2. Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study;BMC Pregnancy and Childbirth;2024-01-03
3. Prenatal diagnosis of 15q11.2 microdeletion fetuses in Eastern China: 21 case series and literature review;The Journal of Maternal-Fetal & Neonatal Medicine;2023-09-28
4. Clinical features and magnesium levels: Novel insights in 15q11.2 BP1–BP2 copy number variants;Journal of Intellectual Disability Research;2023-05-02
5. Prader–Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings;American Journal of Medical Genetics Part A;2022-08-06
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