22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference25 articles.
1. Ahn K, Gotay N, Andersen TM, Anvari AA, Gochman P, et al: High rate of disease-related copy number variations in childhood onset schizophrenia. Mol Psychiatry 19:568-572 (2014).
2. Bendel RP, Baldinger S, Millard C, Arthur DC: Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation. J Med Genet 19:313 (1982).
3. Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, et al: Detection of a subtle rearrangement of chromosome 22 using molecular techniques. Am J Med Genet 58:389-394 (1995).
4. Boyd LJ, Livingston JS, Brown MG, Lawce HJ, Gilhooly JT, et al: Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm. Am J Med Genet 138:355-360 (2005).
5. Chen CH, Chen HI, Liao HM, Chen YJ, Fang JS, et al: Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder. Psychiatr Genet 27:23-33 (2017).
Cited by 4 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. 22q13.33 duplication involving SHANK3 gene: a boy and his mother with “persistent” language and speech sound disorder;Psychiatric Genetics;2023-12-04
2. Contiguous gene syndrome;Cases in Laboratory Genetics and Genomics (LGG) Practice;2023
3. Application of array comparative genomic hybridization analysis for rapid differential diagnosis of a chromosome euchromatic variant of dup 22q13.3 at amniocentesis;Taiwanese Journal of Obstetrics and Gynecology;2021-11
4. 40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the SHANK3 Gene: A Case Report of 15-Year-Old Girl with a Rare Partial SHANK3 Duplication;International Journal of Molecular Sciences;2021-02-14
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