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.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Blood;
127(23): 2791-803, 2016 06 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27084890
3.
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A.
Haematologica;
98(12): 1980-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23812942
4.
Quality in molecular biology testing for inherited thrombophilia disorders.
Semin Thromb Hemost;
38(6): 600-12, 2012 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22907670
5.
von Willebrand disease.
Genet Med;
13(5): 365-76, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21289515
6.
The international society on thrombosis and haematosis von Willebrand disease database: an update.
Semin Thromb Hemost;
37(5): 470-9, 2011 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22102189
7.
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
8.
VWF sequence variants: a data goldmine.
Blood;
122(4): 471-3, 2013 Jul 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23886775
9.
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
10.
p.P2063S: a neutral VWF variant masquerading as a mutation.
Ann Hematol;
93(3): 505-6, 2014 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23775583
11.
Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.
Int J Neonatal Screen;
5(4): 40, 2019 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31844782
12.
Methylation of the suppressor of cytokine signaling 3 gene (SOCS3) in myeloproliferative disorders.
Haematologica;
93(11): 1635-44, 2008 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18815196
13.
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
14.
When 1 plus 1 equals 3 in VWD.
Blood;
114(5): 933-4, 2009 Jul 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19643994
15.
The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.
Haematologica;
96(6): 798-800, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21632843
16.
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
17.
Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease.
PLoS One;
10(12): e0143913, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26630678
18.
Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.
J Thromb Haemost;
17(8): 1253-1260, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31179617
19.
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
20.
The genetic basis of von Willebrand disease.
Blood Rev;
24(3): 123-34, 2010 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20409624