Suppr超能文献

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

作者信息

Urbán Z, Helms C, Fekete G, Csiszár K, Bonnet D, Munnich A, Donis-Keller H, Boyd C D

出版信息

Am J Hum Genet. 1996 Oct;59(4):958-62.

Abstract
摘要

相似文献

2
High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.
Hum Mol Genet. 1998 May;7(5):887-94. doi: 10.1093/hmg/7.5.887.
4
The genomic basis of the Williams-Beuren syndrome.
Cell Mol Life Sci. 2009 Apr;66(7):1178-97. doi: 10.1007/s00018-008-8401-y.
7
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
Clinics (Sao Paulo). 2011;66(6):959-64. doi: 10.1590/s1807-59322011000600007.
10
[Atypical deletions in Williams-Beuren syndrome].
Rev Med Inst Mex Seguro Soc. 2017 Sep-Oct;55(5):615-620.

引用本文的文献

2
Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.
Hum Genet. 2018 May;137(5):365-373. doi: 10.1007/s00439-018-1888-x. Epub 2018 May 5.
3
The contribution of GTF2I haploinsufficiency to Williams syndrome.
Mol Cell Probes. 2018 Aug;40:45-51. doi: 10.1016/j.mcp.2017.12.005. Epub 2018 Jan 3.
4
Modeling Williams syndrome with induced pluripotent stem cells.
Neurogenesis (Austin). 2017 Feb 6;4(1):e1283187. doi: 10.1080/23262133.2017.1283187. eCollection 2017.
5
Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
Biomed Res Int. 2015;2015:903175. doi: 10.1155/2015/903175. Epub 2015 May 18.
6
Children with 7q11.23 duplication syndrome: psychological characteristics.
Am J Med Genet A. 2015 Jul;167(7):1436-50. doi: 10.1002/ajmg.a.37071. Epub 2015 Apr 21.
7
Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
Clin Case Rep. 2014 Apr;2(2):25-32. doi: 10.1002/ccr3.48. Epub 2014 Feb 6.
10
Functional characterization of the human mariner transposon Hsmar2.
PLoS One. 2013 Sep 11;8(9):e73227. doi: 10.1371/journal.pone.0073227. eCollection 2013.

本文引用的文献

1
Supravalvular aortic stenosis.
Circulation. 1961 Dec;24:1311-8. doi: 10.1161/01.cir.24.6.1311.
8
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
Nat Genet. 1993 Sep;5(1):11-6. doi: 10.1038/ng0993-11.
10
A YAC contig map of the human genome.
Nature. 1995 Sep 28;377(6547 Suppl):175-297. doi: 10.1038/377175a0.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验