Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection.

Molecular medicine reports - 1 Nov 2017

Han Qian, Zhang Wenwen, Liu Changjian, Zhou Min, Ran Feng, Yi Long, Sun Xitai, Liu Zhao

Abstract excerpt

The etiology of thoracic aortic aneurysm and dissection (TAAD) is complex and heterogeneous. Emerging evidence has demonstrated that genetic causes may be a consideration in early‑onset TAAD. Owing to overlapping clinical phenotypes and the genetic heterogeneity of TAAD, it is challenging for clinicians to make a molecular diagnosis of TAAD, particularly in those who present with non‑specific syndromic features....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aortic Aneurysm, Thoracic
Share to Aortic Dissection

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Fibrillin-1

Share to Genetic Testing

Share to Marfan Syndrome

Share to Pathology, Molecular

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 28901506
DOI: 10.3892/mmr.2017.7410
PMCID: PMC5865794

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection.PMID 28901506Read ↗

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.Semantic proximity Read ↗

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.Semantic proximity Read ↗

Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.Semantic proximity Read ↗

Toward Precision Medicine in Aortopathies: Genetic Insights from a Brazilian Cohort Through Targeted Next-Generation SequencingSemantic proximity Read ↗

Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.Semantic proximity Read ↗

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testingSemantic proximity Read ↗

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.Semantic proximity Read ↗

Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.Semantic proximity Read ↗

Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.Semantic proximity Read ↗

Clinical implications of identifying pathogenic variants in aortic dissection patients with whole exome sequencingSemantic proximity Read ↗

Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.Semantic proximity Read ↗

FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.