Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference13 articles.
1. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions;Ballif;Hum Mol Genet,2003
2. Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 lead to a putative gene for regulation of cranial suture cranial;Gajecka;Eur J Hum Genet,2005
3. Monosomy 1p36 deletion syndrome;Gajecka;Am J Med Genet Part C Semin Med Genet,2007
4. Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation;Giraudeau;J Med Genet,2001
Cited by 13 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. Biochemical characterization of G64W mutant of acidic beta-crystallin 4;Experimental Eye Research;2019-09
2. Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review;Epilepsy Research;2018-01
3. Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with ventricular septal defects by chromosomal microarray-based analysis;Prenatal Diagnosis;2016-11-21
4. Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication;The Application of Clinical Genetics;2016-01
5. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies;Molecular Genetics and Genomics;2015-06-04
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