Associated Papers
A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis.
Nishijo D et al.
Case Reports in Genetics, 2024
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.
Wallace SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Weerakkody R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
Mariscalco G et al.
Journal of the American Heart Association, 2018
Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants".
Kwartler CS et al.
American Journal of Human Genetics, 2018
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.
Shalata A et al.
Orphanet Journal of Rare Diseases, 2018
Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.
Luyckx I et al.
Clinical Genetics, 2017
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
Hannuksela M et al.
Bmc Medical Genetics, 2016
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.
Ziganshin BA et al.
The Annals of Thoracic Surgery, 2015
The genetic basis for aortic aneurysmal disease.
Saratzis A et al.
Heart (british Cardiac Society), 2014
Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.
Zhang P et al.
Frontiers in Bioscience (landmark Edition), 2013
Mutations in myosin light chain kinase cause familial aortic dissections.
Wang L et al.
American Journal of Human Genetics, 2010