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Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
Am J Hum Genet. 2023 Nov 2;110(11):1903-1918. doi: 10.1016/j.ajhg.2023.09.005. Epub 2023 Oct 9.
Am J Hum Genet. 2023.
PMID: 37816352
Free PMC article.
MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia.
Shovlin CL, Patel D, Bielowka A, Ledermann JA, Modarresi A; Genomics England Research Consortium; Bernabeu-Herrero ME, Aldred MA, Alsafi A.
Shovlin CL, et al. Among authors: bernabeu herrero me.
Br J Haematol. 2024 Jan;204(1):361-365. doi: 10.1111/bjh.19167. Epub 2023 Oct 23.
Br J Haematol. 2024.
PMID: 37872650
No abstract available.
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Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Bernabéu-Herrero ME, Patel D, Bielowka A, Zhu J, Jain K, Mackay IS, Chaves Guerrero P, Emanuelli G, Jovine L, Noseda M, Marciniak SJ, Aldred MA, Shovlin CL.
Bernabéu-Herrero ME, et al.
Blood. 2024 May 30;143(22):2314-2331. doi: 10.1182/blood.2023021777.
Blood. 2024.
PMID: 38457357
Free article.
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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.
Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E.
Shovlin CL, et al. Among authors: bernabeu herrero me.
Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.
Blood. 2020.
PMID: 32573726
Free PMC article.
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Heterogeneity but individual constancy of epitopes, isotypes and avidity of factor H autoantibodies in atypical hemolytic uremic syndrome.
Nozal P, Bernabéu-Herrero ME, Uzonyi B, Szilágyi Á, Hyvärinen S, Prohászka Z, Jokiranta TS, Sánchez-Corral P, López-Trascasa M, Józsi M.
Nozal P, et al. Among authors: bernabeu herrero me.
Mol Immunol. 2016 Feb;70:47-55. doi: 10.1016/j.molimm.2015.12.005. Epub 2015 Dec 15.
Mol Immunol. 2016.
PMID: 26703217
Free article.
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Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
Bernabéu-Herrero ME, Jiménez-Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P.
Bernabéu-Herrero ME, et al.
Mol Immunol. 2015 Oct;67(2 Pt B):276-86. doi: 10.1016/j.molimm.2015.06.021. Epub 2015 Jul 7.
Mol Immunol. 2015.
PMID: 26163426
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Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells.
Albiñana V, Bernabeu-Herrero ME, Zarrabeitia R, Bernabéu C, Botella LM.
Albiñana V, et al. Among authors: bernabeu herrero me.
Thromb Haemost. 2010 Mar;103(3):525-34. doi: 10.1160/TH09-07-0425. Epub 2010 Feb 2.
Thromb Haemost. 2010.
PMID: 20135064
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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.
BMC Med Genet. 2008 Aug 1;9:75. doi: 10.1186/1471-2350-9-75.
BMC Med Genet. 2008.
PMID: 18673552
Free PMC article.
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