Detalhe da pesquisa
1.
The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.
Cell
; 166(5): 1215-1230.e20, 2016 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523608
2.
Dual proteolytic pathways govern glycolysis and immune competence.
Cell
; 159(7): 1578-90, 2014 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25525876
3.
Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.
Platelets
; 34(1): 2138306, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36281781
4.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.
Blood
; 136(9): 1055-1066, 2020 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518946
5.
Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes.
Haematologica
; 107(8): 1902-1913, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35021601
6.
Post-translational polymodification of ß1-tubulin regulates motor protein localisation in platelet production and function.
Haematologica
; 107(1): 243-259, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33327716
7.
Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.
Platelets
; 33(8): 1107-1112, 2022 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587581
8.
A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder.
Platelets
; 33(2): 320-323, 2022 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33616470
9.
An adaptable analysis workflow for characterization of platelet spreading and morphology.
Platelets
; 32(1): 54-58, 2021 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32321340
10.
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Hum Mutat
; 41(11): 1848-1865, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32935436
11.
Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation.
RNA
; 24(7): 939-949, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29678925
12.
Investigation of the contribution of an underlying platelet defect in women with unexplained heavy menstrual bleeding.
Platelets
; 30(1): 56-65, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30520671
13.
Evaluation of the Total Thrombus-Formation System (T-TAS): application to human and mouse blood analysis.
Platelets
; 30(7): 893-900, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30365350
14.
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Hum Mol Genet
; 25(9): 1836-45, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945007
15.
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Haematologica
; 103(1): 148-162, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28983057
16.
Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.
Platelets
; 28(1): 14-19, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27348543
17.
Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function.
Platelets
; 28(6): 611-613, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28267383
18.
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
J Clin Immunol
; 36(2): 117-22, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26801501
19.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24408324
20.
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Haematologica
; 106(11): 3004-3007, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233450