Associated Papers
Early-onset multivalvular disease caused by a missense variant in lamin A/C.
Janin A et al.
Hgg Advances, 2025
A Novel FLNA Gene Mutation Associated With Congenital Atrioventricular Valve Dysplasia.
Yang X et al.
Journal of Clinical Ultrasound : Jcu, 2025
A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant.
Cai H et al.
Orthopaedic Surgery, 2025
Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2025
Polyvalvular Dysplasia and Vascular Abnormalities in a Neonate With an FLNA Variant.
Frenkel A et al.
Jacc. Case Reports, 2024
Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease.
Delwarde C et al.
Heart (british Cardiac Society), 2024
The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.
Iske J et al.
Journal of Clinical Medicine, 2023
Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-A rat model.
Delwarde C et al.
Cardiovascular Research, 2023
X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.
Madej-Pilarczyk A et al.
Kardiologia Polska, 2023
Genetics and pathophysiology of mitral valve prolapse.
Delwarde C et al.
Frontiers in Cardiovascular Medicine, 2023
Genetic background of mitral valve prolapse.
Guicciardi NA et al.
Reviews in Cardiovascular Medicine, 2022
Periostin/Filamin-A: A Candidate Central Regulatory Axis for Valve Fibrogenesis and Matrix Compaction.
Misra S et al.
Frontiers in Cell and Developmental Biology, 2021
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.
Wade EM et al.
Human Mutation, 2020
Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia.
Haataja TJK et al.
Biophysical Journal, 2019
Non-syndromic Mitral Valve Dysplasia Mutation Changes the Force Resilience and Interaction of Human Filamin A.
Haataja TJK et al.
Structure (london, England : 1993), 2019
In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.
Fernández L et al.
Revista Espanola De Cardiologia (english Ed.), 2018
Genetics of syndromic and non-syndromic mitral valve prolapse.
Le Tourneau T et al.
Heart (british Cardiac Society), 2018
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Le Tourneau T et al.
European Heart Journal, 2018
MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions.
Duval D et al.
Journal of Cardiovascular Development and Disease, 2015
Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics, and molecular basis.
Delling FN et al.
Circulation, 2014
Valvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation.
Duval D et al.
Biochimica Et Biophysica Acta, 2014
Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.
Lardeux A et al.
Journal of Cardiovascular Translational Research, 2011
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
Filamins in cardiovascular development.
Zhou X et al.
Trends in Cardiovascular Medicine, 2007
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
Kyndt F et al.
Circulation, 2007
Mitral Valve Prolapse: Multimodality Imaging and Genetic Insights.
Parwani P et al.
Progress in Cardiovascular Diseases, 0
A Novel In-Frame Deletion of FLNA in X-Linked Cardiac Valvular Dysplasia With Variable Clinical Spectrum.
Uchida N et al.
Congenital Anomalies, 0