Detalhe da pesquisa
1.
Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.
Blood;
127(20): 2481-8, 2016 05 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26862110
2.
Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study.
Blood;
113(17): 4110-3, 2009 Apr 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19237732
3.
Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.
Blood Adv;
4(13): 2979-2990, 2020 07 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32609846
4.
The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance.
Blood Adv;
2(13): 1585-1594, 2018 07 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29980574
5.
Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques.
Haematologica;
92(4): 550-3, 2007 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17488667
6.
Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.
Haematologica;
95(12): 2163-5, 2010 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20851871
7.
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Thromb Haemost;
110(2): 264-74, 2013 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23702511
8.
Regulation of the human protein S gene promoter by liver enriched transcription factors.
Br J Haematol;
135(4): 538-46, 2006 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17061980
9.
The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development.
Semin Thromb Hemost;
29(1): 23-30, 2003 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12640561
10.
Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region.
Hum Mol Genet;
11(7): 723-31, 2002 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11929845
11.
Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease-causing variants of von Willebrand factor.
Blood;
102(7): 2452-8, 2003 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12791651
12.
Mutational analysis of class III receptor tyrosine kinases (C-KIT, C-FMS, FLT3) in idiopathic myelofibrosis.
Br J Haematol;
120(3): 464-70, 2003 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12580961
13.
An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees.
Blood;
104(8): 2359-67, 2004 Oct 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15226188
14.
Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias.
Br J Haematol;
121(5): 775-7, 2003 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12780793
15.
c-FMS mutational analysis in acute myeloid leukaemia.
Br J Haematol;
123(4): 749-50, 2003 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14616987
16.
FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia.
Blood;
100(1): 364, 2002 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12096716