Associated Papers
Polyvalvular Dysplasia and Vascular Abnormalities in a Neonate With an FLNA Variant.
Frenkel A et al.
Jacc. Case Reports, 2024
Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.
Lin H et al.
Heliyon, 2024
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
A Systematic Screening of ADHD-Susceptible Variants From 25 Chinese Parents-Offspring Trios.
Li Q et al.
Frontiers in Genetics, 2022
A PIK3R2 Mutation in Familial Temporal Lobe Epilepsy as a Possible Pathogenic Variant.
Wang Y et al.
Frontiers in Genetics, 2021
Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report.
Xie H et al.
Medicine, 2018
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
Fu F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2018
Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.
Liu W et al.
Epilepsy Research, 2017
Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation.
Li J et al.
Journal of Hematology & Oncology, 2015
Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria.
Abe Y et al.
Developmental Medicine and Child Neurology, 2014
CanDrA: cancer-specific driver missense mutation annotation with optimized features.
Mao Y et al.
Plos One, 2013
Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.
Tsuburaya R et al.
American Journal of Medical Genetics. Part A, 2012
FlnA-null megakaryocytes prematurely release large and fragile platelets that circulate poorly.
Jurak Begonja A et al.
Blood, 2011
Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.
Tsurusaki Y et al.
Clinical Genetics, 2011
FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.
Kunishima S et al.
Journal of Human Genetics, 2010
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Parrini E et al.
Brain : a Journal of Neurology, 2006
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