Associated Papers
Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.
Shen X et al.
Journal of Translational Medicine, 2025
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.
Shin JH et al.
European Journal of Human Genetics : Ejhg, 2025
Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.
Chen ZX et al.
Investigative Ophthalmology & Visual Science, 2023
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
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
Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.
Chen Z et al.
The British Journal of Ophthalmology, 2022
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.
Li J et al.
Molecular Genetics & Genomic Medicine, 2021
Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.
Chen ZR et al.
Journal of Thoracic Disease, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Stengl R et al.
Orphanet Journal of Rare Diseases, 2020
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Mannucci L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
Zhurayev R et al.
Genetics Research, 2016
The revised ghent nosology; reclassifying isolated ectopia lentis.
Chandra A et al.
Clinical Genetics, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
Baetens M et al.
Human Mutation, 2011
Marfan's syndrome: an overview.
Yuan SM et al.
Sao Paulo Medical Journal = Revista Paulista De Medicina, 2010
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
Magyar I et al.
Human Mutation, 2009
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.
Rybczynski M et al.
American Journal of Medical Genetics. Part A, 2008
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?
Waldmüller S et al.
European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery, 2007
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G et al.
Human Mutation, 2003
The use of resolvases T4 endonuclease VII and T7 endonuclease I in mutation detection.
Babon JJ et al.
Molecular Biotechnology, 2003
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
Katzke S et al.
Human Mutation, 2002
Enzymatic mutation detection method evaluated for detection of p53 mutations in cDNA from breast cancers.
Norberg T et al.
Clinical Chemistry, 2001
Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.
Youil R et al.
Human Mutation, 2000
[AFBN1 gene in patients with Marfan syndrome].
Valiev RR et al.
Molekuliarnaia Biologiia, 0
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