Detalhe da pesquisa
1.
Pseudothrombocytopenia, beyond a laboratory phenomenon: study of 192 cases.
Ann Hematol
; 102(6): 1363-1374, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37002444
2.
Influence of ABO Locus on PFA-100 Collagen-ADP Closure Time Is Not Totally Dependent on the Von Willebrand Factor. Results of a GWAS on GAIT-2 Project Phenotypes.
Int J Mol Sci
; 20(13)2019 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31262040
3.
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
Blood
; 124(6): e4-e10, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24990887
4.
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
Ear Hear
; 37(1): 112-20, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26226608
5.
Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders.
Br J Haematol
; 170(4): 559-63, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899604
6.
Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome.
Platelets
; 26(8): 751-7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25806575
7.
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Hum Mutat
; 35(2): 236-47, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24186861
8.
Spectrum of the mutations in Bernard-Soulier syndrome.
Hum Mutat
; 35(9): 1033-45, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24934643
9.
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
Am J Hum Genet
; 88(1): 115-20, 2011 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21211618
10.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
Haematologica
; 99(8): 1387-94, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24763399
11.
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Blood
; 117(24): 6673-80, 2011 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21467542
12.
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.
Haematologica
; 98(6): 868-74, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23100277
13.
Influence of age, gender and lifestyle in lymphocyte subsets: report from the Spanish Gait-2 Study.
Acta Haematol
; 127(4): 244-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22538526
14.
Erytrocyte-related phenotypes and genetic susceptibility to thrombosis.
Blood Cells Mol Dis
; 59: 44-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27282566
15.
The scintigraphic index spleen/liver at 30 minutes predicts the success of splenectomy in persistent and chronic primary immune thrombocytopenia.
Am J Hematol
; 86(11): 909-13, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948335
16.
Heritability of thromboxane A2 and prostaglandin E2 biosynthetic machinery in a Spanish population.
Arterioscler Thromb Vasc Biol
; 30(1): 128-34, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19850905
17.
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
Eur J Haematol
; 84(4): 291-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20002731
18.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Nat Commun
; 11(1): 1044, 2020 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32098966
19.
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
Hum Mutat
; 29(3): 409-17, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18059020
20.
Short closure time values in PFA-100® are related to venous thrombotic risk. Results from the RETROVE Study.
Thromb Res
; 169: 57-63, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30015229