Detalhe da pesquisa
1.
Landscape of driver mutations and their clinical effects on Down syndrome-related myeloid neoplasms.
Blood
; 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513239
2.
Transient erythroblastopenia due to a GATA1 variant in an infant female.
Pediatr Blood Cancer
; 71(3): e30834, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149846
3.
A Case of Congenital Leukemia With MYB-GATA1 Fusion Gene in a Female Patient.
J Pediatr Hematol Oncol
; 44(1): e250-e252, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33661169
4.
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.
Am J Hum Genet
; 103(3): 440-447, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30146126
5.
Association of Multiple Gene Polymorphisms Including Homozygous NUDT15 R139C With Thiopurine Intolerance During the Treatment of Acute Lymphoblastic Leukemia.
J Pediatr Hematol Oncol
; 43(8): e1173-e1176, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33625081
6.
Enzymatic Changes in Red Blood Cells of Diamond-Blackfan Anemia.
Tohoku J Exp Med
; 255(1): 49-55, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34526430
7.
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.
Pediatr Hematol Oncol
; 38(6): 515-527, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33622161
8.
Highly sensitive detection of GATA1 mutations in patients with myeloid leukemia associated with Down syndrome by combining Sanger and targeted next generation sequencing.
Genes Chromosomes Cancer
; 59(3): 160-167, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31606922
9.
[New insights into inherited bone marrow failure syndrome].
Rinsho Ketsueki
; 62(10): 1455-1464, 2021.
Artigo
em Japonês
| MEDLINE | ID: mdl-34732617
10.
Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21.
Pediatr Blood Cancer
; 67(4): e28188, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32020774
11.
Integrated genetic and epigenetic analysis revealed heterogeneity of acute lymphoblastic leukemia in Down syndrome.
Cancer Sci
; 110(10): 3358-3367, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31385395
12.
Two siblings with familial neuroblastoma with distinct clinical phenotypes harboring an ALK germline mutation.
Genes Chromosomes Cancer
; 57(12): 665-669, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30350464
13.
[Diagnostic targets and exosome sequence analysis of Diamond-Blackfan anemia in Japan].
Rinsho Ketsueki
; 59(7): 945-952, 2018.
Artigo
em Japonês
| MEDLINE | ID: mdl-30078807
14.
BRAF V600E-positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis.
Haematologica
; 107(7): 1719-1725, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35295077
15.
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia.
Blood Cells Mol Dis
; 59: 31-6, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27282564
16.
Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation.
Haematologica
; 106(2): 635-640, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32354872
17.
Preserved High Probability of Overall Survival with Significant Reduction of Chemotherapy for Myeloid Leukemia in Down Syndrome: A Nationwide Prospective Study in Japan.
Pediatr Blood Cancer
; 63(2): 248-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26481183
18.
Recent advances in inherited bone marrow failure syndrome research.
Rinsho Ketsueki
; 57(7): 882-90, 2016 07.
Artigo
em Japonês
| MEDLINE | ID: mdl-27498735
19.
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
Br J Haematol
; 168(6): 854-64, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25424902
20.
Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome.
Blood
; 121(16): 3181-4, 2013 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23440243