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Page 1
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.
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Xiao S, et al. Among authors: bernabeu herrero me. 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.
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
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.
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.