Detalhe da pesquisa
1.
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Am J Hum Genet
; 106(6): 872-884, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470376
2.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470444
3.
Acute myeloid leukemia: negative prognostic impact of early blast persistence can be in part overcome by a later remission prior to post-induction therapy.
Haematologica
; 107(8): 1773-1785, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758607
4.
Genome sequencing in families with congenital limb malformations.
Hum Genet
; 140(8): 1229-1239, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159400
5.
Aneuploidy in children with relapsed B-cell precursor acute lymphoblastic leukaemia: clinical importance of detecting a hypodiploid origin of relapse.
Br J Haematol
; 185(2): 266-283, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30714092
6.
Flow cytometric maturity score as a novel prognostic parameter in patients with acute myeloid leukemia.
Ann Hematol
; 94(8): 1337-45, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25994787
7.
BCR-ABL1(+) acute myeloid leukemia: clonal selection of a BCR-ABL1(-) subclone as a cause of refractory disease with nilotinib treatment.
Acta Haematol
; 133(2): 237-41, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25401297
8.
High prevalence of immunoglobulin light chain gene aberrations as revealed by FISH in multiple myeloma and MGUS.
Genes Chromosomes Cancer
; 53(8): 650-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24729354
9.
Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia.
Haematologica
; 99(4): 706-14, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24241490
10.
Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts.
Blood
; 118(20): 5583-92, 2011 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948175
11.
Involvement of the MLL gene in adult T-lymphoblastic leukemia.
Genes Chromosomes Cancer
; 51(12): 1114-24, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22927255
12.
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
PLoS Genet
; 5(5): e1000487, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19461874
13.
A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1.
Genes Chromosomes Cancer
; 50(6): 389-96, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21412927
14.
Method Optimization of Skin Biopsy-Derived Fibroblast Culture for Reprogramming Into Induced Pluripotent Stem Cells.
Biopreserv Biobank
; 20(1): 12-23, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34407379
15.
A conserved long-distance telomeric silencing mechanism suppresses mTOR signaling in aging human fibroblasts.
Sci Adv
; 8(33): eabk2814, 2022 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35977016
16.
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
Nat Commun
; 13(1): 6470, 2022 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36309531
17.
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Hum Mol Genet
; 18(12): 2149-65, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19321599
18.
Clinical outcome of older adults with acute myeloid Leukemia: An analysis of a large tertiary referral Center over two decades.
J Geriatr Oncol
; 12(4): 540-549, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33223482
19.
Impact of additional chromosomal aberrations and BCR-ABL kinase domain mutations on the response to nilotinib in Philadelphia chromosome-positive chronic myeloid leukemia.
Haematologica
; 95(4): 582-8, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20015884
20.
Synergistic action of the novel HSP90 inhibitor NVP-AUY922 with histone deacetylase inhibitors, melphalan, or doxorubicin in multiple myeloma.
Eur J Haematol
; 84(4): 337-44, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20028416