Detalhe da pesquisa
1.
Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26.
Clin Genet
; 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757516
2.
A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.
Platelets
; 33(2): 324-327, 2022 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33813986
3.
Trends in survival from myeloma, 1990-2015: a competing risks analysis.
BMC Cancer
; 21(1): 821, 2021 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34271862
4.
Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.
PLoS Genet
; 14(6): e1007399, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29912901
5.
DNA Methylation Profiling of Heterogeneous Sporadic LAM and Matched Lung Tissue.
Am J Respir Cell Mol Biol
; 70(1): 81-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156802
6.
The Genes of Life and Death: A Potential Role for Placental-Specific Genes in Cancer: Active retrotransposons in the placenta encode unique functional genes that may also be used by cancer cells to promote malignancy.
Bioessays
; 39(11)2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28976008
7.
Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes.
Br J Haematol
; 176(2): 268-279, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27861742
8.
Aberrant Immunoglobulin Kappa Locus Rearrangement in a Patient with CARD11-Related B Cell Lymphocytosis.
J Clin Immunol
; 41(8): 1943-1945, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34355353
9.
Green neutrophil and monocyte inclusions - time to acknowledge and report.
Br J Haematol
; 170(2): 229-35, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892703
10.
DMAP: differential methylation analysis package for RRBS and WGBS data.
Bioinformatics
; 30(13): 1814-22, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24608764
11.
Enhancing the peroxidase activity of cytochrome c by mutation of residue 41: implications for the peroxidase mechanism and cytochrome c release.
Biochem J
; 458(2): 259-65, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24329121
12.
CYCS gene variants associated with thrombocytopenia.
Platelets
; 30(5): 672-674, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30452302
13.
Disadvantaged pre-schoolers attending day care in Salvador, Northeast Brazil have a low prevalence of anaemia and micronutrient deficiencies.
Public Health Nutr
; 17(9): 1984-92, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24008015
14.
Comparison of alignment software for genome-wide bisulphite sequence data.
Nucleic Acids Res
; 40(10): e79, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22344695
15.
Global demethylation in loss of imprinting subtype of Wilms tumor.
Genes Chromosomes Cancer
; 52(2): 174-84, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23074036
16.
Discrepancies between two D-dimer assays and impact on clinical decisions; a retrospective analysis of samples tested in community and hospital-based laboratories in Auckland.
N Z Med J
; 137(1589): 12-19, 2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38301197
17.
Technical considerations for reduced representation bisulfite sequencing with multiplexed libraries.
J Biomed Biotechnol
; 2012: 741542, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23193365
18.
Tuberous sclerosis complex: a complex case.
Cold Spring Harb Mol Case Stud
; 8(3)2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35483879
19.
Pronounced sequence specificity of the TET enzyme catalytic domain guides its cellular function.
Sci Adv
; 8(36): eabm2427, 2022 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36070377
20.
Random monoallelic expression: making a choice.
Trends Genet
; 24(6): 257-9, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18450315