Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.
作者信息
Prakash Siddharth, LeMaire Scott A, Bray Molly, Milewicz Dianna M, Belmont John W
机构信息
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
出版信息
Am J Med Genet A. 2010 Sep;152A(9):2399-405. doi: 10.1002/ajmg.a.33571.
Abstract
摘要
相似文献
1
Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.
Am J Med Genet A. 2010 Sep;152A(9):2399-405. doi: 10.1002/ajmg.a.33571.
2
Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML.
Blood. 2008 Feb 1;111(3):1534-42. doi: 10.1182/blood-2007-05-092304. Epub 2007 Oct 22.
3
Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays.
Haematologica. 2008 Jul;93(7):994-1000. doi: 10.3324/haematol.12603. Epub 2008 May 27.
4
Genetic and Epigenetic Regulation of Aortic Aneurysms.
Biomed Res Int. 2017;2017:7268521. doi: 10.1155/2017/7268521. Epub 2017 Jan 1.
5
Frequent occurrence of uniparental disomy in colorectal cancer.
Carcinogenesis. 2007 Jan;28(1):38-48. doi: 10.1093/carcin/bgl086. Epub 2006 Jun 13.
6
A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.
Cytogenet Genome Res. 2009;124(1):94-101. doi: 10.1159/000200093. Epub 2009 Apr 15.
7
Aortic rupture after thoracic endovascular repair in a patient with familial thoracic aortic aneurysm and dissections type 6 (FTAAD6).
J Cardiovasc Surg (Torino). 2016 Jun;57(3):482-3.
8
SNP-based arrays complement classic cytogenetics in the detection of chromosomal aberrations in Wilms' tumor.
Cancer Genet. 2012 Mar;205(3):80-93. doi: 10.1016/j.cancergen.2011.12.003.
9
Use of single nucleotide polymorphism-based mapping arrays to detect copy number changes and loss of heterozygosity in multiple myeloma.
Clin Lymphoma Myeloma. 2006 Nov;7(3):186-91. doi: 10.3816/CLM.2006.n.057.
10
Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report.
J Formos Med Assoc. 2019 Mar;118(3):739-742. doi: 10.1016/j.jfma.2018.12.010. Epub 2019 Jan 5.
引用本文的文献
1
Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
J Am Heart Assoc. 2018 Aug 7;7(15):e009302. doi: 10.1161/JAHA.118.009302.
2
Epidemiology of thoracic aortic dissection.
Nat Rev Cardiol. 2011 Feb;8(2):103-13. doi: 10.1038/nrcardio.2010.187. Epub 2010 Dec 21.
本文引用的文献
1
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Hum Mol Genet. 2010 Apr 1;19(7):1263-75. doi: 10.1093/hmg/ddq003. Epub 2010 Jan 6.
2
Long-term effects of losartan on structure and function of the thoracic aorta in a mouse model of Marfan syndrome.
Br J Pharmacol. 2009 Nov;158(6):1503-12. doi: 10.1111/j.1476-5381.2009.00443.x. Epub 2009 Oct 8.
3
Blocking TNF-alpha attenuates aneurysm formation in a murine model.
J Immunol. 2009 Aug 15;183(4):2741-6. doi: 10.4049/jimmunol.0803164. Epub 2009 Jul 20.
4
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10.
5
Population analysis of large copy number variants and hotspots of human genetic disease.
Am J Hum Genet. 2009 Feb;84(2):148-61. doi: 10.1016/j.ajhg.2008.12.014. Epub 2009 Jan 22.
6
Absence of TGFbeta signaling in embryonic vascular smooth muscle leads to reduced lysyl oxidase expression, impaired elastogenesis, and aneurysm.
Genesis. 2009 Feb;47(2):115-21. doi: 10.1002/dvg.20466.
7
Thoracic aortic aneurysm: reading the enemy's playbook.
Yale J Biol Med. 2008 Dec;81(4):175-86.
8
Silencing of the transforming growth factor-beta (TGFbeta) receptor II by Kruppel-like factor 14 underscores the importance of a negative feedback mechanism in TGFbeta signaling.
J Biol Chem. 2009 Mar 6;284(10):6291-300. doi: 10.1074/jbc.M807791200. Epub 2008 Dec 15.
9
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.
Am J Med Genet A. 2008 Dec 1;146A(23):3070-4. doi: 10.1002/ajmg.a.32567.
10
Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis.
J Vasc Res. 2009;46(2):119-37. doi: 10.1159/000151766. Epub 2008 Sep 2.
Zotero 插件