Detalhe da pesquisa
1.
Inherited Platelet Disorders: An Updated Overview.
Int J Mol Sci
; 22(9)2021 Apr 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33926054
2.
Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.
Semin Thromb Hemost
; 45(7): 695-707, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31041795
3.
RASGRP2 gene variations associated with platelet dysfunction and bleeding.
Platelets
; 30(4): 535-539, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30849270
4.
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Haematologica
; 103(1): 148-162, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28983057
5.
Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.
Platelets
; 29(2): 192-195, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-28762304
6.
A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis.
Am J Hematol
; 96(3): E83-E88, 2021 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33326144
7.
PTGS1 gene variations associated with bleeding and platelet dysfunction.
Platelets
; 32(5): 710-716, 2021 Jul 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32584621
8.
Platelet transcriptome analysis in patients with germline RUNX1 mutations.
J Thromb Haemost
; 21(5): 1352-1365, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36736831
9.
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.
Cells
; 11(20)2022 10 14.
Artigo
Inglês
| MEDLINE | ID: mdl-36291092
10.
A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.
J Thromb Haemost
; 20(5): 1248-1255, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35170221
11.
Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease.
Blood Adv
; 6(17): 5244-5255, 2022 09 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35349645
12.
Characterization of the Platelet Phenotype Caused by a Germline RUNX1 Variant in a CRISPR/Cas9-Generated Murine Model.
Thromb Haemost
; 121(9): 1193-1205, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-33626581
13.
Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Blood Adv
; 5(24): 5453-5467, 2021 12 28.
Artigo
Inglês
| MEDLINE | ID: mdl-34516618
14.
Developmental Differences in Platelet Inhibition Response to Prostaglandin E1.
Neonatology
; 117(1): 15-23, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-31786577
15.
Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications.
Sci Transl Med
; 11(522)2019 12 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31826978
16.
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.
Ann Med
; 51(2): 141-148, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30990103
17.
Significant Hypo-Responsiveness to GPVI and CLEC-2 Agonists in Pre-Term and Full-Term Neonatal Platelets and following Immune Thrombocytopenia.
Thromb Haemost
; 118(6): 1009-1020, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29695020
18.
Comprehensive comparison of neonate and adult human platelet transcriptomes.
PLoS One
; 12(8): e0183042, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28813466