Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly
Author:
Affiliation:
1. Paediatric and Reproductive Genetics Unit Women's and Children's Hospital North Adelaide South Australia Australia
2. Genetic Medicine SA Pathology North Adelaide South Australia Australia
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61592
Reference13 articles.
1. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient
2. A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample
3. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
4. Caspr3-Deficient Mice Exhibit Low Motor Learning during the Early Phase of the Accelerated Rotarod Task
5. Karczewski K. J. Francioli L. C. Tiao G. Cummings B. B. Alföldi J. Wang Q. …MacArthur D. G.(2019).Variation across 141 456 human exomes and genomes reveals the spectrum of loss‐of‐function intolerance across human protein‐coding genes. doi:https://doi.org/10.1101/531210.
Cited by 6 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 a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement;Molecular Syndromology;2023-09-18
2. Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse;Frontiers in Neuroscience;2023-01-30
3. Genome-wide association study of abdominal MRI-measured visceral fat: The multiethnic cohort adiposity phenotype study;PLOS ONE;2023-01-06
4. Extensive genome introgression between domestic ferret and European polecat during population recovery in Great Britain;Journal of Heredity;2022-08-06
5. Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement;Journal of Genetics;2021-09-16
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