Search details
1.
Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes.
Haematologica
; 107(8): 1902-1913, 2022 08 01.
Article
in English
| MEDLINE | ID: mdl-35021601
2.
Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay.
Blood
; 123(8): e11-22, 2014 Feb 20.
Article
in English
| MEDLINE | ID: mdl-24408324
3.
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Haematologica
; 101(10): 1170-1179, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27479822
4.
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.
Blood
; 122(25): 4090-3, 2013 Dec 12.
Article
in English
| MEDLINE | ID: mdl-24100448
5.
What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?
Br J Haematol
; 165(2): 193-203, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24479992
6.
Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel.
Blood
; 120(25): 5041-9, 2012 Dec 13.
Article
in English
| MEDLINE | ID: mdl-23002116
7.
An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets.
Blood
; 118(20): 5641-51, 2011 Nov 17.
Article
in English
| MEDLINE | ID: mdl-21937696
8.
A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis.
Blood
; 115(2): 363-9, 2010 Jan 14.
Article
in English
| MEDLINE | ID: mdl-19828703
9.
Gene of the issue: RUNX1 mutations and inherited bleeding.
Platelets
; 28(2): 208-210, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28277065
10.
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.
Article
in English
| MEDLINE | ID: mdl-19237732
11.
ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated?St. Anne's College, Oxford, 6-9th September 2016.
Platelets
; 27(8): 719-721, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27841701
12.
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Res Pract Thromb Haemost
; 2(4): 640-652, 2018 Oct.
Article
in English
| MEDLINE | ID: mdl-30349881
13.
Transcription factor defects causing platelet disorders.
Blood Rev
; 31(1): 1-10, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27450272
14.
Determinants of platelet count in humans.
Haematologica
; 96(1): 10-3, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21193429
15.
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.
Article
in English
| MEDLINE | ID: mdl-26630678
16.
Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.
Thromb Haemost
; 113(4): 826-37, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25567036
17.
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
J Clin Invest
; 125(9): 3600-5, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26280575
18.
Lack of association between polymorphisms in the interleukin-1 gene cluster and familial thrombophilia.
Thromb Res
; 129(5): 629-34, 2012 May.
Article
in English
| MEDLINE | ID: mdl-21839492
19.
Transient inherited antithrombin deficiency: a real phenomenon?
Thromb Haemost
; 117(3): 642-643, 2017 02 28.
Article
in English
| MEDLINE | ID: mdl-27975105
20.
Common sequence variations in the P2Y12 and CYP3A5 genes do not explain the variability in the inhibitory effects of clopidogrel therapy.
Platelets
; 17(4): 250-8, 2006 Jun.
Article
in English
| MEDLINE | ID: mdl-16769602