Detalhe da pesquisa
1.
Diagnostic delay of MYH9-related disorder in Japan.
Br J Haematol;
2024 Apr 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38650331
2.
A nationwide survey of MYH9-related disease in Japan.
Clin Exp Nephrol;
28(1): 40-49, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37733142
3.
Renal injury associated with MYH9 disorder with 5773delG mutation: A case report.
Clin Nephrol;
99(3): 153-160, 2023 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36602281
4.
Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.
Am J Med Genet A;
188(6): 1716-1722, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35156755
5.
MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.
Pediatr Blood Cancer;
68(7): e29055, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33855781
6.
GPIbα is required for platelet-mediated hepatic thrombopoietin generation.
Blood;
132(6): 622-634, 2018 08 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29794068
7.
Novel ACTN1 variants in cases of thrombocytopenia.
Hum Mutat;
40(12): 2258-2269, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31237726
8.
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Blood;
129(4): 520-524, 2017 01 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28064200
9.
Microtubule polyglutamylation and acetylation drive microtubule dynamics critical for platelet formation.
BMC Biol;
16(1): 116, 2018 10 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30336771
10.
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.
Clin Genet;
94(6): 548-553, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30051457
11.
Linkage between the mechanisms of thrombocytopenia and thrombopoiesis.
Blood;
127(10): 1234-41, 2016 Mar 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26787737
12.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Blood;
127(23): 2791-803, 2016 06 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27084890
13.
Inherited macrothrombocytopenia due to a novel splice donor site mutation in ITGB3.
Ann Hematol;
102(10): 2947-2949, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37515626
14.
A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbß3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction.
Ann Hematol;
97(4): 629-640, 2018 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29380037
15.
Macrothrombocytopenia With Congenital Bilateral Cataracts: A Phenotype of MYH9 Disorder With Exon 24 Indel Mutations.
J Pediatr Hematol Oncol;
40(1): 76-78, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29200148
16.
Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.
Platelets;
29(8): 793-800, 2018 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29090586
17.
Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly.
J Anesth;
32(4): 641-644, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29934660
18.
[Congenital thrombocytopenia].
Rinsho Ketsueki;
59(6): 764-773, 2018.
Artigo
em Japonês
| MEDLINE
| ID: mdl-29973458
19.
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Genet Med;
19(7): 796-802, 2017 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28102861
20.
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.
Blood;
125(5): 869-72, 2015 Jan 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25361813