Detalhe da pesquisa
1.
Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges.
Br J Haematol
; 196(6): 1293-1310, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34658019
2.
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
3.
Disease evolution and outcomes in familial AML with germline CEBPA mutations.
Blood
; 126(10): 1214-23, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26162409
4.
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Haematologica
; 106(11): 3004-3007, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233450
5.
NUP98-NSD1 fusion in association with FLT3-ITD mutation identifies a prognostically relevant subgroup of pediatric acute myeloid leukemia patients suitable for monitoring by real time quantitative PCR.
Genes Chromosomes Cancer
; 52(11): 1053-64, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23999921
6.
GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations.
Br J Haematol
; 161(5): 701-705, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23560626
7.
Inherited DDX41 mutations: 11 genes and counting.
Blood
; 127(8): 960-1, 2016 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917736
8.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Blood Adv
; 7(20): 6092-6107, 2023 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37406166
9.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Nat Commun
; 11(1): 1044, 2020 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32098966
10.
Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?
Leukemia
; 32(7): 1482-1492, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29483711
11.
Characteristics and outcomes of patients with acute promyelocytic leukemia and extreme hyperleukocytosis at presentation.
Blood Adv
; 7(11): 2580-2585, 2023 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36075018
12.
Familial CEBPA-mutated acute myeloid leukemia.
Semin Hematol
; 54(2): 87-93, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28637622
13.
Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.
Eur J Hum Genet
; 25(8): 1020-1024, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28513614
14.
Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma.
Nat Genet
; 46(2): 176-181, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24362818
15.
GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.
Leukemia
; 32(11): 2502-2507, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29749400
16.
Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies.
Eur J Hum Genet
; 24(8)2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26813945