Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

Published:2013-07-09 Issue:11 Volume:132 Page:1287-1299
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

David Dezső,Marques Bárbara,Ferreira Cristina,Araújo Carlos,Vieira Luís,Soares Gabriela,Dias Cristina,Pinto Maximina

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-013-1333-0.pdf

Reference26 articles.

1. Brandt CA, Lüdecke H-J, Hindkiaer J, Stromkjaer H, Pinkel D, Herlin T, Bolund L, Friedrich U (1997) A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region. Hum Genet 100:334–338

2. Chen JQ, Bao Y, Litton J, Xiao L, Zhang HZ, Warneke CL, Wu Y, Shen X, Wu S, Katz RL, Sahin A, Bondy M, Murray JL, Radvanyi L (2011) Expression and relevance of TRPS-1: a new GATA transcription factor in breast cancer. Horm Cancer 2:132–143

3. David D, Cardoso J, Marques B, Marques R, Silva ED, Santos H, Boavida MG (2003) Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFB2 in the pathogenesis of Peters’ anomaly. Genomics 81:489–503

4. David D, Marques B, Ferreira C, Vieira P, Corona-Rivera A, Ferreira JC, van Bokhoven H (2009) Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2. Eur J Hum Genet 17:1024–1033

5. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O (2007) Cryptic deletions are a common finding in ‘‘balanced’’ reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 44:750–762

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. The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients;Turkish Archives of Pediatrics;2023-01-02

2. Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis;Experimental Eye Research;2018-03

3. Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene;JIMD Reports;2015

4. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene;BMC Medical Genetics;2014-05-02

同舟云学术

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