Negative regulators of integrin activity
J Pouwels, J Nevo, T Pellinen, J Ylänne… - Journal of cell …, 2012 - journals.biologists.com
Integrins are heterodimeric transmembrane adhesion receptors composed of α-and β-
subunits. They are ubiquitously expressed and have key roles in a number of important …
subunits. They are ubiquitously expressed and have key roles in a number of important …
Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
PB Daniel, T Morgan, Y Alanay, E Bijlsma… - Human …, 2012 - Wiley Online Library
Dominant missense mutations in FLNB, encoding the actin‐cross linking protein filamin B
(FLNB), cause a broad range of skeletal dysplasias with varying severity by an unknown …
(FLNB), cause a broad range of skeletal dysplasias with varying severity by an unknown …
[图书][B] Fetal and perinatal skeletal dysplasias: an atlas of multimodality imaging
CM Hall, AC Offiah, F Forzano, M Lituania, M Fink… - 2012 - taylorfrancis.com
Skeletal dysplasias are rare, they may be genetic, sporadic or environmentally determined
conditions, affecting bone and cartilage growth and development. The genetic mutations …
conditions, affecting bone and cartilage growth and development. The genetic mutations …
Precocious appearance of the capital femoral ossific nucleus in Larsen syndrome
A De La Rocha, JG Birch, JR Schiller - JBJS, 2012 - journals.lww.com
Background: Larsen syndrome is associated with multiple complications, including spinal
deformities and recalcitrant joint dislocations. We noted capital femoral ossific nuclei on …
deformities and recalcitrant joint dislocations. We noted capital femoral ossific nuclei on …
A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging
S Tsutsumi, A Maekawa, M Obata, T Morgan… - Fetal diagnosis and …, 2012 - karger.com
Boomerang dysplasia is a rare lethal osteochondrodysplasia characterized by disorganized
mineralization of the skeleton, leading to complete nonossification of some limb bones and …
mineralization of the skeleton, leading to complete nonossification of some limb bones and …
A new syndromic craniosynostosis with involvement of the spine, long bones, pelvis, and digits: molecular genetic and array analysis
AL Shanske, JT Goodrich, L Ala-Kokko… - Clinical …, 2012 - journals.lww.com
Results SNP oligonucleotide microarray analysis did not show any significant copy number
changes across the genome but showed a genotyping profile consistent with a …
changes across the genome but showed a genotyping profile consistent with a …
Larsen Syndrome: sonographic findings
HH Ghazle - Journal of Diagnostic Medical Sonography, 2012 - journals.sagepub.com
Larsen syndrome is a rare inherited disorder of collagen formation with multiple joint
dislocations, cardiac abnormalities, short stature, talipes equinovarus, short and broad …
dislocations, cardiac abnormalities, short stature, talipes equinovarus, short and broad …