Detalhe da pesquisa
1.
Enhancer-gene rewiring in the pathogenesis of Quebec platelet disorder.
Blood
; 136(23): 2679-2690, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32663239
2.
The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays.
Haemophilia
; 26(6): 1056-1063, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094873
3.
Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.
Int J Mol Sci
; 21(21)2020 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33114153
4.
Relapse pattern and long-term outcomes in subjects with acquired haemophilia A.
Haemophilia
; 25(2): 252-257, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30694571
5.
A novel FGG missense variant associated with fibrinogen storage disease in a large family from Quebec.
Haemophilia
; 30(3): 858-861, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38561627
6.
Antithrombin and fibrinogen levels as predictors for plasma L-asparaginase activity in children with acute lymphoblastic leukemia.
Pediatr Blood Cancer
; 66(7): e27729, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30938058
7.
Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.
Blood
; 128(4): 584-93, 2016 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27317792
8.
Switching to emicizumab: A prospective surveillance study in haemophilia A subjects with inhibitors.
Haemophilia
; 29(1): 348-351, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315386
9.
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
Haemophilia
; 29(3): 921-924, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897533
10.
Acquired thrombotic thrombocytopenic purpura with isolated CFHR3/1 deletion-rapid remission following complement blockade.
Pediatr Nephrol
; 33(8): 1437-1442, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728803
11.
Management of acquired von Willebrand syndrome.
Transfus Apher Sci
; 57(6): 721-723, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401518
12.
Management of acquired hemophilia A: Review of current evidence.
Transfus Apher Sci
; 57(6): 717-720, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30396835
13.
Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?
Platelets
; 29(2): 148-155, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29090587
14.
Evaluation of anti-factor VIII antibodies in haemophilia A subjects switching products following a provincial tender.
Haemophilia
; 28(1): e1-e4, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34766421
15.
Immune tolerance induction using Fc-fusion-protein recombinant factor IX in severe haemophilia B.
Haemophilia
; 27(6): e776-e779, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599780
16.
The diagnosis of a haemophilia A carrier over 2 decades.
Haemophilia
; 27(1): e133-e136, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32526814
17.
A full molecular picture of F8 intron 1 inversion created with optical genome mapping.
Haemophilia
; 27(5): e638-e640, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232555
18.
A prospective surveillance study in haemophilia B patients following a population switch to recombinant factor IX (nonacog gamma).
Haemophilia
; 27(4): e530-e533, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33555068
19.
Management of Labour and Delivery in a Patient With Acquired Factor VII Deficiency With Inhibitor: A Case Report.
J Obstet Gynaecol Can
; 38(2): 160-3, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27032741
20.
L-Asparaginase lowers plasma antithrombin and mannan-binding-lectin levels: Impact on thrombotic and infectious events in children with acute lymphoblastic leukemia.
Pediatr Blood Cancer
; 62(8): 1381-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820776