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BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, Young S, Plant P, Fülöp GT, Langa C, Morrell NW, Botella LM, Bernabeu C, Stevenson DA, Runo JR, Bayrak-Toydemir P. Wooderchak-Donahue WL, et al. Among authors: bernabeu c. Am J Hum Genet. 2013 Sep 5;93(3):530-7. doi: 10.1016/j.ajhg.2013.07.004. Epub 2013 Aug 22. Am J Hum Genet. 2013. PMID: 23972370 Free PMC article.
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.
Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir P. Damjanovich K, et al. Among authors: bernabeu c. Orphanet J Rare Dis. 2011 Dec 22;6:85. doi: 10.1186/1750-1172-6-85. Orphanet J Rare Dis. 2011. PMID: 22192717 Free PMC article.
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
Hodgson J, Ruiz-Llorente L, McDonald J, Quarrell O, Ugonna K, Bentham J, Mason R, Martin J, Moore D, Bergstrom K, Bayrak-Toydemir P, Wooderchak-Donahue W, Morrell NW, Condliffe R, Bernabeu C, Upton PD. Hodgson J, et al. Among authors: bernabeu c. Mol Genet Genomic Med. 2021 Dec;9(12):e1685. doi: 10.1002/mgg3.1685. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33834622 Free PMC article.
Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia.
Fernandez-L A, Garrido-Martin EM, Sanz-Rodriguez F, Pericacho M, Rodriguez-Barbero A, Eleno N, Lopez-Novoa JM, Düwell A, Vega MA, Bernabeu C, Botella LM. Fernandez-L A, et al. Among authors: bernabeu c. Hum Mol Genet. 2007 Jul 1;16(13):1515-33. doi: 10.1093/hmg/ddm069. Epub 2007 Apr 9. Hum Mol Genet. 2007. PMID: 17420163
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Fontalba A, Fernandez-L A, García-Alegria E, Albiñana V, Garrido-Martin EM, Blanco FJ, Zarrabeitia R, Perez-Molino A, Bernabeu-Herrero ME, Ojeda ML, Fernandez-Luna JL, Bernabeu C, Botella LM. Fontalba A, et al. Among authors: bernabeu herrero me, bernabeu c. BMC Med Genet. 2008 Aug 1;9:75. doi: 10.1186/1471-2350-9-75. BMC Med Genet. 2008. PMID: 18673552 Free PMC article.
214 results