Detalhe da pesquisa
1.
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
Hum Mol Genet
; 32(11): 1836-1849, 2023 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36721989
2.
Rare germline complement factor H variants in patients with paroxysmal nocturnal hemoglobinuria.
Blood
; 141(15): 1812-1816, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36626252
3.
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Blood
; 141(23): 2853-2866, 2023 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952636
4.
Genetic alterations and MRD refine risk assessment for KMT2A-rearranged B-cell precursor ALL in adults: a GRAALL study.
Blood
; 142(21): 1806-1817, 2023 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595275
5.
A clickable melphalan for monitoring DNA interstrand crosslink accumulation and detecting ICL repair defects in Fanconi anemia patient cells.
Nucleic Acids Res
; 51(15): 7988-8004, 2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37395445
6.
Concurrent CDX2 cis-deregulation and UBTF::ATXN7L3 fusion define a novel high-risk subtype of B-cell ALL.
Blood
; 139(24): 3505-3518, 2022 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35316324
7.
Prognostic impact of DDX41 germline mutations in intensively treated acute myeloid leukemia patients: an ALFA-FILO study.
Blood
; 140(7): 756-768, 2022 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35443031
8.
Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia.
Haematologica
; 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38497148
9.
Somatic genetic alterations predict hematological progression in GATA2 deficiency.
Haematologica
; 108(6): 1515-1529, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727400
10.
Allogeneic transplantation in acute myelogenous leukemia: a comprehensive single institution's experience.
Haematologica
; 108(9): 2369-2379, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951151
11.
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Clin Genet
; 97(4): 639-643, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845318
12.
IPSS-M in myelodysplastic neoplasms arising from aplastic anemia and paroxysmal nocturnal hemoglobinuria.
Blood
; 141(25): 3122-3125, 2023 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37053552
13.
Orogenital Transmission of Neisseria meningitidis Causing Acute Urethritis in Men Who Have Sex with Men.
Emerg Infect Dis
; 25(1): 175-176, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561300
14.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
; 21(9): 2036-2042, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739909
15.
Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.
Blood Cancer Discov
; 4(2): 134-149, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36630200
16.
Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation.
Nat Commun
; 14(1): 588, 2023 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737440
17.
Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria.
J Clin Oncol
; 41(1): 132-142, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054881
18.
Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia.
Cell Stem Cell
; 30(2): 153-170.e9, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36736290
19.
Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes.
Mol Ther Methods Clin Dev
; 22: 66-75, 2021 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485595
20.
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.
Eur J Med Genet
; 63(4): 103777, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31580924