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
Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments.
Kneußel J et al.
Pediatric Research, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
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
Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.
Huo QY et al.
Investigative Ophthalmology & Visual Science, 2025
Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.
Han D et al.
Molecular Genetics & Genomic Medicine, 2024
Unexpected Genetic Twists in Patients with Cardiac Devices.
Goanta EV et al.
Journal of Clinical Medicine, 2024
Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies.
Guo D et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.
Chen ZX et al.
Investigative Ophthalmology & Visual Science, 2023
Clinical and genetic findings in Chinese families with congenital ectopia lentis.
Liu X et al.
Molecular Genetics & Genomic Medicine, 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
Rare eye diseases in India: A concise review of genes and genetics.
Jeyabalan N et al.
Indian Journal of Ophthalmology, 2022
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
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Wenger BM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.
Stark VC et al.
Genes, 2020
Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.
Gong B et al.
Molecular Genetics & Genomic Medicine, 2019
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.
Hubmacher D et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta.
Massam-Wu T et al.
Journal of Cell Science, 2010
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
Aragon-Martin JA et al.
Human Mutation, 2010
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
Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.
Deng T et al.
Molecular Vision, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.
Faivre L et al.
Journal of Medical Genetics, 2008
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
Vanita V et al.
Molecular Vision, 2007
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
Jin C et al.
Molecular Vision, 2007
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
Howarth R et al.
Genetic Testing, 2007
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
Loeys B et al.
Human Mutation, 2004
Ectopia lentis phenotypes and the FBN1 gene.
Adès LC et al.
American Journal of Medical Genetics. Part A, 2004
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
Biggin A et al.
Human Mutation, 2004
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G et al.
Human Mutation, 2003
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
Comeglio P et al.
The British Journal of Ophthalmology, 2002
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Robinson PN et al.
Human Mutation, 2002
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
Mátyás G et al.
Human Mutation, 2002