De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case
Author:
Funder
Fundação de Amparo à Pesquisa (FAPESP)
CNPq
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference30 articles.
1. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome;Cantagrel;Am. J. Hum. Genet.,2008
2. An informative protocol for the investigation of recurrent miscarriage: preliminary experience of 500 consecutive cases;Clifford;Hum. Reprod.,1994
3. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients;de Gregori;J. Med. Genet.,2007
4. Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report;de Vree;Mol. Cytogenet.,2009
5. A de novo complex chromosome rearrangement involving three chromosomes (2, 13, and 18) in an oligospermic male;Ergul;Fertil. Steril.,2009
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. Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies;Molecular Cytogenetics;2018-08-10
2. Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier;Journal of Pediatric Genetics;2017-08-14
3. Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes;Molecular Syndromology;2017
4. De novo balanced complex chromosome rearrangements involving chromosomes 1B and 3B of wheat and 1R of rye;Genome;2016-12
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