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Article

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.

Molecular and cellular probes - 1 Apr 2013

Kathiravel Ushanthine, Keyser Britta, Hoffjan Sabine, Kötting Judith, Müller Melanie, Sivalingam Sugirthan, Bonin Michael, Arslan-Kirchner Mine, von Kodolitsch Yskert, Binner Priska, Scheffold Thomas, Stuhrmann Manfred, Waldmüller Stephan

Abstract excerpt

Thoracic aortic aneurysm and dissection is associated with increasing mortality rate that may occur as part of a syndrome or as an isolated familial condition. Several genes have been implicated in causing TAAD, though an appropriate genetic test for their parallel testing is not yet available. Herein, we describe the novel 117-kb "MFSTAAD chip" that may help to understand the genetic basis of TAAD. A custom...

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Source

Identifiers

PMID: 23142374
DOI: 10.1016/j.mcp.2012.10.002

Genes

FBN1
ACTA2
MYH11
NOTCH1
TGFBR1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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