Article

Toward Precision Medicine in Aortopathies: Genetic Insights from a Brazilian Cohort Through Targeted Next-Generation Sequencing

2023-12-26

Abstract excerpt

<h4>ABSTRACT</h4> Thoracic aortic diseases (or aortopathies) result from complex interactions between genetic and hemodynamic factors. Often clinically silent, these diseases can lead to lethal complications like aortic dissection or rupture. This study focused on a Brazilian cohort of 79 individuals with thoracic aortic diseases, exploring genetic factors through targeted next-generation sequencing (tNGS) of 15 p...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 669710bd-4b4f-536f-8e89-60e4eac2af17
DOI: 10.1101/2023.12.22.23300140

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Toward Precision Medicine in Aortopathies: Genetic Insights from a Brazilian Cohort Through Targeted Next-Generation SequencingDOI 10.1101/2023.12.22.23300140Read

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

Genetic factors and management strategies in aortic health: a literature review of inherited aortopathySemantic proximity Read

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical PhenotypeSemantic 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

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

The genetics of aortopathies: Hereditary thoracic aortic aneurysms and dissections.Semantic proximity Read

Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease.Semantic proximity Read

Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic DissectionSemantic proximity Read

Insights on Prevalence of Hereditary Aortic Thoracic Disease and Impact on Family Screening in Routine Clinical Cardiothoracic Surgery CareSemantic proximity Read

New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.Semantic proximity Read

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

Marfan syndrome revisited: From genetics to the clinic.Semantic proximity Read