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
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Lauffer P et al.
American Journal of Medical Genetics. Part A, 2023
36380655 (PubMed )
Supplement: AJMG-191-479-s002.xlsx › Blad1
Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
Ponińska JK et al.
Journal of Translational Medicine, 2022
35078481 (PubMed )
Supplement: 12967_2022_3251_MOESM1_ESM.pdf
Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.
Bitarafan F et al.
Molecular Genetics & Genomic Medicine, 2020
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
Becerra-Muñoz VM et al.
Orphanet Journal of Rare Diseases, 2018
29357934 (PubMed )
Supplement: 13023_2017_754_MOESM1_ESM.docx
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.
Yang H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Rommel K et al.
Human Mutation, 2005
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
Loeys B et al.
Human Mutation, 2004
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
Matsukawa R et al.
Human Mutation, 2001
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