Associated Papers
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
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
Structural basis of the filamin A actin-binding domain interaction with F-actin.
Iwamoto DV et al.
Nature Structural & Molecular Biology, 2018
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
47 patients with FLNA associated periventricular nodular heterotopia.
Lange M et al.
Orphanet Journal of Rare Diseases, 2015
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
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
Clark AR et al.
Human Molecular Genetics, 2009
Structure of the human filamin A actin-binding domain.
Ruskamo S et al.
Acta Crystallographica. Section D, Biological Crystallography, 2009
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
Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.
Gérard-Blanluet M et al.
American Journal of Medical Genetics. Part A, 2006
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Guerrini R et al.
Neurology, 2004
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
Masurel-Paulet A et al.
European Journal of Medical Genetics, 0
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