Associated Papers
Case Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction.
Liu J et al.
Frontiers in Genetics, 2025
Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.
Amezquita J et al.
Biorxiv : the Preprint Server for Biology, 2023
Sinus of Valsalva Aneurysm in Females.
Wang Y et al.
International Heart Journal, 2022
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Billon C et al.
Orphanet Journal of Rare Diseases, 2021
Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review.
Deng X et al.
Bmc Pediatrics, 2020
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
Pelizzo G et al.
Bmc Pediatrics, 2019
A review of filamin A mutations and associated interstitial lung disease.
Sasaki E et al.
European Journal of Pediatrics, 2019
Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
Chen MH et al.
American Journal of Medical Genetics. Part A, 2018
Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification.
Shelmerdine SC et al.
Pediatric Pulmonology, 2017
Lung Transplantation for FLNA-Associated Progressive Lung Disease.
Burrage LC et al.
The Journal of Pediatrics, 2017
Lung disease associated with filamin A gene mutation: a case report.
Eltahir S et al.
Journal of Medical Case Reports, 2016
Filamin A mutation may be associated with diffuse lung disease mimicking bronchopulmonary dysplasia in premature newborns.
Lord A et al.
Respiratory Care, 2014
Novel no-stop FLNA mutation causes multi-organ involvement in males.
Oegema R et al.
American Journal of Medical Genetics. Part A, 2013
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
Fergelot P et al.
European Journal of Medical Genetics, 2012
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
Masurel-Paulet A et al.
European Journal of Medical Genetics, 0
Lung disease in FLNA mutation: confirmatory report.
de Wit MC et al.
European Journal of Medical Genetics, 0