Associated Papers
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1
Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate.
Saleem K et al.
Heliyon, 2019
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Blackburn PR et al.
European Journal of Human Genetics : Ejhg, 2019
Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.
Rodríguez-Contreras FJ et al.
American Journal of Medical Genetics. Part A, 2019
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.
Nixon TRW et al.
European Journal of Human Genetics : Ejhg, 2019
Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish.
Krall M et al.
Plos One, 2019
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Reis LM et al.
Human Genetics, 2011
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
Suzuki S et al.
American Journal of Human Genetics, 2009
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