Boomerang Dysplasia Latest Advances

Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.

Journal: Oxidative medicine and cellular longevity

Published: October 30, 2021

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.

Journal: Molecules (Basel, Switzerland)

Published: October 19, 2020

Fetal magnetic resonance imaging of skeletal dysplasias.

Journal: Pediatric radiology

Published: June 14, 2019

Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings.

Journal: American journal of translational research

Published: March 03, 2018

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Journal: Clinical genetics

Published: January 18, 2018

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

Journal: American journal of medical genetics. Part A

Published: November 16, 2017

Filamin B: The next hotspot in skeletal research?

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: February 21, 2017

A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.

Journal: Fetal diagnosis and therapy

Published: July 13, 2011

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Journal: Human mutation

Published: June 23, 2011

Filamin B mutations cause chondrocyte defects in skeletal development.

Journal: Human molecular genetics

Published: May 19, 2007

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: March 16, 2007

Mutations in FLNB cause boomerang dysplasia.

Journal: Journal of medical genetics

Published: July 05, 2005

Filters

Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.

Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.

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.

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.

Fetal magnetic resonance imaging of skeletal dysplasias.

Fetal magnetic resonance imaging of skeletal dysplasias.

Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings.

Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings.

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

Filamin B: The next hotspot in skeletal research?

Filamin B: The next hotspot in skeletal research?

A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.

A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Filamin B mutations cause chondrocyte defects in skeletal development.

Filamin B mutations cause chondrocyte defects in skeletal development.

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.

Mutations in FLNB cause boomerang dysplasia.

Mutations in FLNB cause boomerang dysplasia.