Associated Papers
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
Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors.
Sanchez-Duffhues G et al.
Bone, 2020
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
Racacho L et al.
European Journal of Human Genetics : Ejhg, 2015
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
[Genetics and genomics of pulmonary arterial hypertension].
Soubrier F et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2014
Genetics and genomics of pulmonary arterial hypertension.
Soubrier F et al.
Journal of the American College of Cardiology, 2013
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
Mutations in bone morphogenetic protein receptor genes in pulmonary arterial hypertension patients. Possible involvement of BMPRIB.
Shiraishi I
Circulation Journal : Official Journal of the Japanese Circulation Society, 2012
The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.
Machado RD
Scientifica, 2012
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