Detalhe da pesquisa
1.
Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing.
Int J Mol Sci
; 24(22)2023 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003562
2.
Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.
Haemophilia
; 28(1): 125-137, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708896
3.
First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.
Br J Haematol
; 203(4): e102-e107, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37696499
4.
Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries.
Blood
; 133(24): 2618-2622, 2019 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31043424
5.
Gaining Insights into Inherited Bleeding Disorders of Complex Etiology in Pediatric Patients: Whole-Exome Sequencing as First-Line Investigation Tool.
Thromb Haemost
; 2023 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158197
6.
Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism.
Thromb Haemost
; 123(4): 438-452, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36696913
7.
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
8.
Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk.
Thromb Haemost
; 122(6): 1027-1039, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35272364
9.
Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis.
PLoS One
; 12(4): e0176301, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28445521
10.
Genetic Determinants of Thrombin Generation and Their Relation to Venous Thrombosis: Results from the GAIT-2 Project.
PLoS One
; 11(1): e0146922, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26784699
11.
The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease.
Sci Rep
; 6: 39255, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27976734
12.
The Central Role of KNG1 Gene as a Genetic Determinant of Coagulation Pathway-Related Traits: Exploring Metaphenotypes.
PLoS One
; 11(12): e0167187, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28005926
13.
A Rao-Blackwellized particle filter for joint parameter estimation and biomass tracking in a stochastic predator-prey system.
Math Biosci Eng
; 11(3): 573-97, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24506552
14.
Linkage and association analyses using families identified a locus affecting an osteoporosis-related trait.
Bone
; 60: 98-103, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334171