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closedAccessaccesoRestringido.pdf.jpg5-sep-2013BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasiaWooderchak-Donahue, Whitney; McDonald, Jamie; O'Fallon, Brendan D.; Upton, Paul D.; Li, Wei; Roman, Beth L.; Young, Sarah; Plant, Parker; Fülöp, Gyula T.; Langa, Carmen CSIC; Morrell, Nicholas W.; Botella, Luisa María CSIC ORCID ; Bernabéu, Carmelo CSIC ORCID ; Stevenson, David A.; Runo, James R.; Bayrak-Toydemir, Pinarartículo
openAccessJHG_Ruiz-LLorente_2019.pdf.jpg6-feb-2019Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasiaRuiz-Llorente, Lidia CSIC ORCID; McDonald, Jamie; Wooderchak-Donahue, Whitney; Briggs, Eric; Chesnutt, Mark; Bayrak-Toydemir, Pinar; Bernabéu, Carmelo CSIC ORCID artículo
openAccessmggm_Hodgson_2021.pdf.jpg9-abr-2021Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in childrenHodgson, Joshua; Ruiz-Llorente, Lidia CSIC ORCID; McDonald, Jamie; Quarrell, Oliver; Ugonna, Kelechi; Bentham, James; Mason, Rebeca; Martin, Jennifer; Moore, David; Bergstrom, Katie; Bayrak-Toydemir, Pinar; Wooderchak-Donahue, Whitney; Morrell, Nicholas W.; Condliffe, Robin; Bernabéu, Carmelo CSIC ORCID ; Upton, Paul D.artículo
openAccessjcm_bernabéu_2020.pdf.jpg5-nov-2020Potential second-hits in hereditary hemorrhagic telangiectasiaBernabéu, Carmelo CSIC ORCID ; Bayrak-Toydemir, Pinar; McDonald, Jamie; Letarte, Michelleartículo
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