Detalhe da pesquisa
1.
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Br J Haematol
; 204(2): 595-605, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37945316
2.
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Haematologica
; 109(2): 422-430, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584291
3.
Variable Clinical Courses of Varicella Zoster Virus Infection-related or Vaccination-related Bone Marrow Failure.
J Pediatr Hematol Oncol
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652069
4.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol
; 256: 109777, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741518
5.
Neighborhood poverty and pediatric allogeneic hematopoietic cell transplantation outcomes: a CIBMTR analysis.
Blood
; 137(4): 556-568, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33104215
6.
Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.
Hum Genomics
; 16(1): 40, 2022 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36123612
7.
Pearson syndrome-like anemia induced by accumulation of mutant mtDNA and anemia with imbalanced white blood cell lineages induced by Drp1 deletion in a murine model.
Pharmacol Res
; 185: 106467, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36179953
8.
Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2.
Am J Hematol
; 97(11): 1495-1496, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441393
9.
Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia.
Pediatr Blood Cancer
; 69(10): e29909, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35927969
10.
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Hum Mutat
; 42(11): 1367-1383, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34298585
11.
Community health status and outcomes after allogeneic hematopoietic cell transplantation in the United States.
Cancer
; 127(4): 609-618, 2021 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33085090
12.
Predictors of Loss to Follow-Up Among Pediatric and Adult Hematopoietic Cell Transplantation Survivors: A Report from the Center for International Blood and Marrow Transplant Research.
Biol Blood Marrow Transplant
; 26(3): 553-561, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31726205
13.
Acanthocytosis: a key feature for the diagnosis of abetalipoproteinemia.
Blood
; 141(26): 3231, 2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37382999
14.
Comparison of outcomes of immunosuppressive therapy with rabbit versus horse antithymocyte globulin and cyclosporine a in children with acquired severe aplastic anemia.
Am J Hematol
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622880
15.
Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita.
Br J Haematol
; 183(1): 110-118, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29984823
16.
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
Blood
; 127(11): 1387-97; quiz 1518, 2016 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26702063
17.
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Blood
; 138(23): 2441-2445, 2021 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469508
18.
Graft-versus-Host Disease after HLA-Matched Sibling Bone Marrow or Peripheral Blood Stem Cell Transplantation: Comparison of North American Caucasian and Japanese Populations.
Biol Blood Marrow Transplant
; 22(4): 744-751, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26762681
19.
Comparing Outcomes with Bone Marrow or Peripheral Blood Stem Cells as Graft Source for Matched Sibling Transplants in Severe Aplastic Anemia across Different Economic Regions.
Biol Blood Marrow Transplant
; 22(5): 932-40, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26797402
20.
Therapy with low-dose azacitidine for MDS in children and young adults: a retrospective analysis of the EWOG-MDS study group.
Br J Haematol
; 172(6): 930-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26766110