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.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan.
Genes Chromosomes Cancer
; 53(11): 902-10, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044358
10.
Identification of TRIB1 R107L gain-of-function mutation in human acute megakaryocytic leukemia.
Blood
; 119(11): 2608-11, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22294728
11.
Antileukemic effect of azacitidine, a DNA methyltransferase inhibitor, on cell lines of myeloid leukemia associated with Down syndrome.
Exp Hematol
; 132: 104179, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38342295
12.
Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia.
Blood
; 116(22): 4631-8, 2010 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-20729467
13.
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
Haematologica
; 102(3): e93-e96, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27909223
14.
Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome-related myeloid disorders.
Sci Rep
; 12(1): 20587, 2022 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36447001
15.
Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond-Blackfan anaemia.
EJHaem
; 3(1): 163-167, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35846220
16.
Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia.
Bone Marrow Transplant
; 56(5): 1013-1020, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948829
17.
Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.
Br J Haematol
; 141(5): 681-8, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18397343
18.
Platelet-derived growth factor may be associated with fibrosis in a Down syndrome patient with transient myeloproliferative disorder.
Eur J Haematol
; 81(1): 58-64, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18331602
19.
Childhood acute myeloid leukemia with 5q deletion and HNRNPH1-MLLT10 fusion: the first case report.
Blood Adv
; 6(10): 3162-3166, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35139176
20.
Correction: Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia.
Bone Marrow Transplant
; 56(5): 1218-1219, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057144