Associated Papers
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.
Strong A et al.
Scientific Reports, 2023
36653407 (PubMed )
Supplement: 41598_2023_27641_MOESM2_ESM.xlsx › Sheet1
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
S UK et al.
Molecules (basel, Switzerland), 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
A case study of atypical Larsen syndrome with absent hallmark joint dislocations.
Kodra N et al.
Molecular Genetics & Genomic Medicine, 2019
The filamin-B-refilin axis - spatiotemporal regulators of the actin-cytoskeleton in development and disease.
Baudier J et al.
Journal of Cell Science, 2018
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
Bernkopf M et al.
Human Mutation, 2017
F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.
Zhao Y et al.
American Journal of Physiology. Cell Physiology, 2016
[Larsen-syndrome: final diagnosis following multiple surgical interventions].
Kisfali P et al.
Orvosi Hetilap, 2013
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Daniel PB et al.
Human Mutation, 2012
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Duff RM et al.
American Journal of Human Genetics, 2011
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
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.
Dobbs MB et al.
Clinical Orthopaedics and Related Research, 2008
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Bicknell LS et al.
Journal of Medical Genetics, 2007
Mutations in FLNB cause boomerang dysplasia.
Bicknell LS et al.
Journal of Medical Genetics, 2005
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