Detalhe da pesquisa
1.
Alteration of Cadherin 3 Expression and DNA Methylation in Association with Aggressive Renal Cell Carcinoma.
Int J Mol Sci
; 24(22)2023 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003666
2.
Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency.
Int Arch Allergy Immunol
; 183(3): 337-349, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34619682
3.
High frequency of variants in genes associated with primary immunodeficiencies in patients with rheumatic diseases with secondary hypogammaglobulinaemia.
Ann Rheum Dis
; 80(3): 392-399, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046446
4.
DNA methylation of tumor associated calcium signal transducer 2 (TACSTD2) loci shows association with clinically aggressive renal cell cancers.
BMC Cancer
; 21(1): 444, 2021 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33882870
5.
Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium.
Breast Cancer Res
; 18(1): 98, 2016 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27716369
6.
Decreased GATA5 mRNA expression associates with CpG island methylation and shortened recurrence-free survival in clear cell renal cell carcinoma.
BMC Cancer
; 14: 101, 2014 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24533449
7.
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.
Breast Cancer Res Treat
; 137(2): 533-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23225144
8.
Corrigendum: Vulnerability to meningococcal disease in immunodeficiency due to a novel pathogenic missense variant in NFKB1.
Front Immunol
; 14: 1212029, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37234149
9.
Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPD.
RMD Open
; 9(4)2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38088248
10.
A role for XRCC2 gene polymorphisms in breast cancer risk and survival.
J Med Genet
; 48(7): 477-84, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21632523
11.
Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.
RMD Open
; 8(2)2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36113963
12.
Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.
Cell Mol Immunol
; 18(5): 1122-1140, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795850
13.
Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1.
Front Immunol
; 12: 767188, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35003082
14.
DNA Methylation in INA, NHLH2, and THBS4 Is Associated with Metastatic Disease in Renal Cell Carcinoma.
Cancers (Basel)
; 14(1)2021 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008203
15.
Homeostatic and pathogenic roles of PI3Kδ in the human immune system.
Adv Immunol
; 146: 109-137, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32327151
16.
Age-, tumor-, and metastatic tissue-associated DNA hypermethylation of a T-box brain 1 locus in human kidney tissue.
Clin Epigenetics
; 12(1): 33, 2020 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32070431
17.
DNA methylation of sarcosine dehydrogenase (SARDH) loci as a prognosticator for renal cell carcinoma.
Oncol Rep
; 42(5): 2159-2168, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31545450
18.
Progressive Immunodeficiency with Gradual Depletion of B and CD4⺠T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2).
Diseases
; 7(2)2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30987377
19.
A Splice Site Variant of CDK12 and Breast Cancer in Three Eurasian Populations.
Front Oncol
; 9: 493, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31259151
20.
DNA methylation of neural EGFL like 1 (NELL1) is associated with advanced disease and the metastatic state of renal cell cancer patients.
Oncol Rep
; 40(6): 3861-3868, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30272321