Detalhe da pesquisa
1.
Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Haematologica
; 104(3): 587-598, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30361419
2.
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Haematologica
; 102(12): 2005-2014, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28971901
3.
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing.
J Thromb Haemost
; 21(7): 1779-1788, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36940803
4.
Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.
Thromb Haemost
; 120(3): 437-448, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32135566
5.
Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
PLoS One
; 13(6): e0197876, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29924855
6.
First application of MLPA method in severe von Willebrand disease. Confirmation of a new large VWF gene deletion and identification of heterozygous carriers.
Br J Haematol
; 152(2): 240-2, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20955405
7.
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.
Thromb Haemost
; 115(1): 40-50, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26245874