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Items: 14

1.

Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods.

De la Morena-Barrio B, Borràs N, Rodríguez-Alén A, de la Morena-Barrio ME, García-Hernández JL, Padilla J, Bravo-Pérez C, Miñano A, Rollón N, Corral J, Vidal F, Vicente V.

Br J Haematol. 2019 Apr 2. doi: 10.1111/bjh.15913. [Epub ahead of print] No abstract available.

PMID:
30941754
2.

Improving security of autologous hematopoietic stem cell transplant in patients with light-chain amyloidosis.

Gutiérrez-García G, Cibeira MT, Rovira M, Fernández de Larrea C, Tovar N, Rodríguez-Lobato LG, Rosiñol L, Marín P, Solano-Vega J, Suárez-Lledó M, Bataller A, Solano MT, de Llobet N, Domenech A, Borràs N, Lozano M, Cid J, Martínez C, Urbano-Ispizua Á, Esteve J, Carreras E, Fernández-Avilés F, Bladé J.

Bone Marrow Transplant. 2019 Jan 21. doi: 10.1038/s41409-019-0447-y. [Epub ahead of print]

PMID:
30664727
3.

Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

Borràs N, Orriols G, Batlle J, Pérez-Rodríguez A, Fidalgo T, Martinho P, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Parra R, Altisent C, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, Pérez-Montes R, Marcellin S, Moreto A, Herrero S, Soto I, Fernández-Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés-Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Quismondo NC, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Vidal F, Corrales I.

Haematologica. 2019 Mar;104(3):587-598. doi: 10.3324/haematol.2018.203166. Epub 2018 Oct 25.

4.

Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure.

Del Rey J, Vidal F, Ramírez L, Borràs N, Corrales I, Garcia I, Martinez-Pasarell O, Fernandez SF, Garcia-Cruz R, Pujol A, Plaja A, Salaverria I, Oliver-Bonet M, Benet J, Navarro J.

PLoS One. 2018 Oct 17;13(10):e0205692. doi: 10.1371/journal.pone.0205692. eCollection 2018.

5.

Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Fidalgo T, Martinho P, Pinto CS, Oliveira AC, Salvado R, Borràs N, Coucelo M, Manco L, Maia T, Mendes MJ, Del Orbe Barreto R, Corrales I, Vidal F, Ribeiro ML.

Res Pract Thromb Haemost. 2017 Jun 23;1(1):69-80. doi: 10.1002/rth2.12016. eCollection 2017 Jul.

6.

Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.

Pérez-Rodríguez A, Batlle J, Corrales I, Borràs N, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Navarro N, Altisent C, Pérez-Montes R, Marcellini S, Moreto A, Herrero S, Soto I, Fernández Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Castro Quismondo N, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio M, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Batlle F, Vidal F, López-Fernández MF.

PLoS One. 2018 Jun 20;13(6):e0197876. doi: 10.1371/journal.pone.0197876. eCollection 2018.

7.

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Borràs N, Batlle J, Pérez-Rodríguez A, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Balda I, Altisent C, Pérez-Montes R, Fisac RM, Iruín G, Herrero S, Soto I, de Rueda B, Jiménez-Yuste V, Alonso N, Vilariño D, Arija O, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Sarmiento L, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, César JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Cornudella R, Aguilar C, Vidal F, Corrales I.

Haematologica. 2017 Dec;102(12):2005-2014. doi: 10.3324/haematol.2017.168765. Epub 2017 Sep 29.

8.

Advanced cell-based modeling of the royal disease: characterization of the mutated F9 mRNA.

Martorell L, Luce E, Vazquez JL, Richaud-Patin Y, Jimenez-Delgado S, Corrales I, Borras N, Casacuberta-Serra S, Weber A, Parra R, Altisent C, Follenzi A, Dubart-Kupperschmitt A, Raya A, Vidal F, Barquinero J.

J Thromb Haemost. 2017 Nov;15(11):2188-2197. doi: 10.1111/jth.13808. Epub 2017 Sep 25.

PMID:
28834196
9.

Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.

Fidalgo T, Salvado R, Corrales I, Pinto SC, Borràs N, Oliveira A, Martinho P, Ferreira G, Almeida H, Oliveira C, Marques D, Gonçalves E, Diniz M, Antunes M, Tavares A, Caetano G, Kjöllerström P, Maia R, Sevivas TS, Vidal F, Ribeiro L.

Thromb Haemost. 2016 Jul 4;116(1):17-31. doi: 10.1160/TH15-07-0604. Epub 2016 Mar 17.

PMID:
26988807
10.

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.

Batlle J, Pérez-Rodríguez A, Corrales I, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Balda I, Altisent C, Pérez-Montes R, Fisac RM, Iruín G, Herrero S, Soto I, de Rueda B, Jiménez-Yuste V, Alonso N, Vilariño D, Arija O, Campos R, Paloma MJ, Bermejo N, Toll T, Mateo J, Arribalzaga K, Marco P, Palomo Á, Sarmiento L, Iñigo B, Nieto Mdel M, Vidal R, Martínez MP, Aguinaco R, César JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Cornudella R, Aguilar C, Borràs N, Vidal F.

Thromb Haemost. 2016 Jan;115(1):40-50. doi: 10.1160/TH15-04-0282. Epub 2015 Aug 6.

PMID:
26245874
11.

Update on the science of myelodysplastic syndromes.

Ridgeway JA, Fechter L, Murray C, Borràs N.

Clin J Oncol Nurs. 2012 Jun;16 Suppl:9-22. doi: 10.1188/12.CJON.S1.9-22. Review.

12.

Mineralization of desmetryne by electrochemical advanced oxidation processes using a boron-doped diamond anode and an oxygen-diffusion cathode.

Borràs N, Arias C, Oliver R, Brillas E.

Chemosphere. 2011 Nov;85(7):1167-75. doi: 10.1016/j.chemosphere.2011.09.008. Epub 2011 Oct 11.

PMID:
21996652
13.

Degradation of atrazine by electrochemical advanced oxidation processes using a boron-doped diamond anode.

Borràs N, Oliver R, Arias C, Brillas E.

J Phys Chem A. 2010 Jun 24;114(24):6613-21. doi: 10.1021/jp1035647.

PMID:
20507135
14.

[Pulsating pumps in ambulatory chemotherapy].

Ortiz N, Figueras C, Valverde M, Alvarez M, Arbea A, Borrás N, Bosch F, López-Guillermo A.

Rev Enferm. 1998 Apr;21(236):33-4. Spanish. No abstract available.

PMID:
9653322

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