Associated Papers
Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity.
Khan A et al.
American Journal of Medical Genetics. Part A, 2026
Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.
Choi K et al.
Scientific Reports, 2025
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Drackley A et al.
Genome Medicine, 2024
Prevalence and Influence of Genetic Variants on Follow-Up Results in Patients Surviving Thoracic Aortic Therapy.
Ghazy T et al.
Journal of Clinical Medicine, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.
Cannon-Albright LA et al.
Cancers, 2023
Analysis of the genetic contribution to thoracic aortic aneurysm or dissection in a prospective cohort of patients with familial and sporadic cases in East China.
Duan Y et al.
Orphanet Journal of Rare Diseases, 2023
Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1.
Liu X et al.
Frontiers in Genetics, 2022
Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
Hernándiz A et al.
Clinical Genetics, 2021
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Nayak SS et al.
Scientific Reports, 2021
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA et al.
Plos One, 2021
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
Li J et al.
Science China. Life Sciences, 2019
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.
Wolford BN et al.
Circulation. Genomic and Precision Medicine, 2019
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
Mattassi R et al.
Journal of Vascular Surgery, 2018
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
Becerra-Muñoz VM et al.
Orphanet Journal of Rare Diseases, 2018
Marfan syndrome with a homozygous FBN1 splicing mutation.
Lu XX et al.
American Journal of Medical Genetics. Part A, 2017
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
Arnaud P et al.
Journal of Medical Genetics, 2017
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Pinard A et al.
Human Mutation, 2016
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
Sakai LY et al.
Gene, 2016
Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions.
Davis MR et al.
Molecular Genetics and Metabolism, 2016
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
Somers AE et al.
American Journal of Medical Genetics. Part A, 2016
Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.
Coll M et al.
International Journal of Legal Medicine, 2016
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
Reyes-Hernández OD et al.
Bmc Musculoskeletal Disorders, 2016
Difficulties in diagnosing Marfan syndrome using current FBN1 databases.
Groth KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
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
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Jacquinet A et al.
European Journal of Medical Genetics, 2014
Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome.
Pepe G et al.
Bmc Medical Genetics, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Callier P et al.
Clinical Genetics, 2013
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
Hogue J et al.
Clinical Genetics, 2013
A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression.
Lima BL et al.
Plos One, 2010
Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].
Arslan-Kirchner M et al.
European Journal of Human Genetics : Ejhg, 2010
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C et al.
European Journal of Human Genetics : Ejhg, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
Faivre L et al.
American Journal of Medical Genetics. Part A, 2009
Fibrillin 1 gene with R2726W mutation is absent in patients with primary protrusio acetabuli and developmental dysplasia of the hip.
Ghosh S et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2009
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Fibrillin I gene polymorphism is associated with tall stature of normal individuals.
Mamada M et al.
Human Genetics, 2007
The molecular genetics of Marfan syndrome and related disorders.
Robinson PN et al.
Journal of Medical Genetics, 2006
[Genetic testing for Marfan syndrome].
Mizuguchi T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2005
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
Arbustini E et al.
Human Mutation, 2005
Molecular genetics of Marfan syndrome.
Boileau C et al.
Current Opinion in Cardiology, 2005
The FBN1 (R2726W) mutation is not fully penetrant.
Buoni S et al.
Annals of Human Genetics, 2004
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
Hutchinson S et al.
Human Molecular Genetics, 2003
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G et al.
Human Mutation, 2003
Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.
Adès LC et al.
American Journal of Medical Genetics, 2002
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
Palz M et al.
American Journal of Medical Genetics, 2000