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.
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Blood
; 139(7): 1039-1051, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34767620
3.
SH2B3 alterations in a novel genetic condition, juvenile myelomonocytic leukemia, and myeloproliferative neoplasia.
Haematologica
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38618667
4.
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
5.
Efficacy and safety of azacitidine in pediatric patients with newly diagnosed advanced myelodysplastic syndromes before hematopoietic stem cell transplantation in the AZA-JMML-001 trial.
Pediatr Blood Cancer
; 71(5): e30931, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433307
6.
Protection from UV light is an evolutionarily conserved feature of the haematopoietic niche.
Nature
; 558(7710): 445-448, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899448
7.
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
8.
Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.
Hum Mol Genet
; 31(1): 10-17, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34254124
9.
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
10.
Juvenile myelomonocytic leukemia: who's the driver at the wheel?
Blood
; 133(10): 1060-1070, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670449
11.
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Haematologica
; 106(5): 1303-1310, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32241839
12.
Severe adverse events during sirolimus "off-label" therapy for vascular anomalies.
Pediatr Blood Cancer
; 68(8): e28936, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580918
13.
High-resolution pediatric reference intervals for 15 biochemical analytes described using fractional polynomials.
Clin Chem Lab Med
; 59(7): 1267-1278, 2021 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565284
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.
Sustained remission with azacitidine monotherapy and an aberrant precursor B-lymphoblast population in juvenile myelomonocytic leukemia.
Pediatr Blood Cancer
; 66(10): e27905, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31250550
16.
Next-generation reference intervals for pediatric hematology.
Clin Chem Lab Med
; 57(10): 1595-1607, 2019 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31005947
17.
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Blood
; 128(15): 1913-1917, 2016 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27488349
18.
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
19.
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
20.
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Haematologica
; 103(3): 427-437, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29217778