Detalhe da pesquisa
1.
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Blood
; 141(4): 406-421, 2023 01 26.
Artigo
Inglês
| MEDLINE | ID: mdl-36395340
2.
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Platelets
; 34(1): 2176699, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36846897
3.
Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.
Int J Mol Sci
; 24(6)2023 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36982178
4.
Inherited Platelet Disorders: An Updated Overview.
Int J Mol Sci
; 22(9)2021 Apr 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33926054
5.
Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.
Semin Thromb Hemost
; 45(7): 695-707, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31041795
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.
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.
J Thromb Haemost
; 22(3): 851-859, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38007062
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.
Effect of sarpogrelate treatment on 5-HT modulation of vascular sympathetic innervation and platelet activity in diabetic rats.
Biomed Pharmacother
; 153: 113276, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35717784
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.
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