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
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
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.
Gustafson J et al.
Case Reports in Genetics, 2022
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
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
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
Vatti L et al.
American Journal of Medical Genetics. Part A, 2017
Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.
Maeda J et al.
Heart and Vessels, 2016
Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations.
Latasiewicz M et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2016
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W et al.
American Journal of Medical Genetics. Part A, 2015
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
van de Luijtgaarden KM et al.
Human Genetics, 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
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.
Yoo EH et al.
Clinical Genetics, 2010
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Faivre L et al.
European Journal of Human Genetics : Ejhg, 2009
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
Adès LC et al.
American Journal of Medical Genetics. Part A, 2006
Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories.
Schollen E et al.
Human Mutation, 2005
Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
Smallridge RS et al.
The Journal of Biological Chemistry, 2003
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
Rommel K 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