Detalhe da pesquisa
1.
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Hum Mutat;
41(1): 277-290, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31562665
2.
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Blood;
130(8): 1026-1030, 2017 08 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28637664
3.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood;
127(23): 2903-14, 2016 06 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26912466
4.
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
5.
Treatment burden, haemostatic strategies and real world inhibitor screening practice in non-severe haemophilia A.
Br J Haematol;
176(5): 796-804, 2017 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28198996
6.
Blocking direct inhibitor bleeding.
Blood;
121(18): 3543-4, 2013 May 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23640994
7.
Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.
Blood;
121(14): 2773-84, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23355534
8.
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.
Haematologica;
104(6): e260-e264, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30573501
9.
Three-year outcomes of valoctocogene roxaparvovec gene therapy for hemophilia A.
J Thromb Haemost;
2024 Apr 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38614387
10.
A need to increase von Willebrand disease awareness: vwdtest.com - A global initiative to help address this gap.
Blood Rev;
58: 101018, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36210240
11.
Dealing with the uncertain risk of variant Creutzfeldt-Jakob disease transmission by coagulation replacement products.
Br J Haematol;
158(4): 442-52, 2012 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22775486
12.
Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.
Blood Adv;
6(13): 3956-3969, 2022 07 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35316832
13.
Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor.
Blood;
114(16): 3489-96, 2009 Oct 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19687512
14.
Diagnosis, therapeutic advances, and key recommendations for the management of factor X deficiency.
Blood Rev;
50: 100833, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34024682
15.
The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology.
Br J Haematol;
167(4): 453-65, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25113304
16.
Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations.
Thromb Haemost;
99(5): 916-24, 2008 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18449422
17.
Drug therapy in anticoagulation: which drug for which patient?
Clin Med (Lond);
17(3): 233-244, 2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28572224
18.
A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.
PLoS One;
12(11): e0188405, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29186156
19.
Oligosaccharide structures of von Willebrand factor and their potential role in von Willebrand disease.
Blood Rev;
20(2): 83-92, 2006 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16507387
20.
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Sci Transl Med;
8(328): 328ra30, 2016 Mar 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26936507