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
41555926 (PubMed )
Supplement: Table1.docx
Sinus of Valsalva Aneurysm in Females.
Wang Y et al.
International Heart Journal, 2022
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
Gerlevik U et al.
Plos One, 2022
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
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
Cannaerts E et al.
Bmc Medical Genetics, 2018
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
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
Fergelot P et al.
European Journal of Medical Genetics, 2012
FLNA genomic rearrangements cause periventricular nodular heterotopia.
Clapham KR et al.
Neurology, 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
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