Associated Papers
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.
Taniguchi Y et al.
Journal of Medical Genetics, 2023
34916231 (PubMed )
Supplement: jmedgenet-2021-108186supp001.pdf
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
Magyar I et al.
Human Mutation, 2009
Molecular genetic characterization of sudden deaths due to thoracic aortic dissection or rupture.
Saxton S et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0
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