Associated Papers
Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature.
Hunter L et al.
Advanced Genetics (hoboken, N.j.), 2025
A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree.
Yang X et al.
American Journal of Medical Genetics. Part A, 2025
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.
Zhao S et al.
Biorxiv : the Preprint Server for Biology, 2023
BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
Bednarek M et al.
Molecular Genetics & Genomic Medicine, 2021
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease.
Wu M et al.
Bone Research, 2016
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
Racacho L et al.
European Journal of Human Genetics : Ejhg, 2015
Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
Badura-Stronka M et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2015
[Advances in the molecular genetics of brachydactyly].
Guo Y et al.
Yi Chuan = Hereditas, 2012
Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension.
Chida A et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2012
Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.
Ricard N et al.
Blood, 2010
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
Douzgou S et al.
American Journal of Medical Genetics. Part A, 2008
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
Lehmann K et al.
European Journal of Human Genetics : Ejhg, 2006