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
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
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
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 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
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.
Qi M et al.
International Ophthalmology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.
Chen S et al.
Frontiers in Molecular Biosciences, 2021
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
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
The revised ghent nosology; reclassifying isolated ectopia lentis.
Chandra A et al.
Clinical Genetics, 2015
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.
Pees C et al.
Clinical Genetics, 2014
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.
Li J et al.
Molecular Vision, 2014
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
Wang WJ et al.
Journal of Molecular Medicine (berlin, Germany), 2013
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
Robinson DO et al.
Clinical Genetics, 2012
Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.
Micheal S et al.
Molecular Vision, 2012
Ectopia lentis as the presenting and primary feature in Marfan syndrome.
Zadeh N et al.
American Journal of Medical Genetics. Part A, 2011
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.
Hung CC et al.
Annals of Human Genetics, 2009
Inherited diseases and syndromes leading to aortic aneurysms and dissections.
Caglayan AO et al.
European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery, 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
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.
De Backer J et al.
Clinical Genetics, 2007
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
Jin C et al.
Molecular Vision, 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
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
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
Körkkö J et al.
Journal of Medical Genetics, 2002
The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN et al.
Journal of Medical Genetics, 2000
Marfan Database (third edition): new mutations and new routines for the software.
Collod-Béroud G et al.
Nucleic Acids Research, 1998
Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
Black C et al.
Human Mutation, 1998
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
Collod-Béroud G et al.
Nucleic Acids Research, 1997
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C et al.
Human Mutation, 1997
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.
Ståhl-Hallengren C et al.
The Journal of Clinical Investigation, 1994
[AFBN1 gene in patients with Marfan syndrome].
Valiev RR et al.
Molekuliarnaia Biologiia, 0
Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome.
Jin C et al.
Japanese Journal of Ophthalmology, 0