Associated Papers
Frequency and characteristics of emphysema in adults with FLNA variants: a single-center study.
Michalski A et al.
Orphanet Journal of Rare Diseases, 2025
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
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
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.
Carss KJ et al.
Circulation. Genomic and Precision Medicine, 2020
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
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3).
Balci S et al.
Developmental Medicine and Child Neurology, 2007
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Parrini E et al.
Brain : a Journal of Neurology, 2006
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Guerrini R et al.
Neurology, 2004
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.
Kakita A et al.
Acta Neuropathologica, 2002
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.
Sheen VL et al.
Human Molecular Genetics, 2002
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
Moro F et al.
Neurology, 2002
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Sheen VL et al.
Human Molecular Genetics, 2001
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
Masurel-Paulet A et al.
European Journal of Medical Genetics, 0