Detalhe da pesquisa
1.
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Am J Med Genet A
; 188(3): 959-964, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34904380
2.
Longitudinal Epigenome-Wide Analysis of Kidney Transplant Recipients Pretransplant and Posttransplant.
Kidney Int Rep
; 8(2): 330-340, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36815102
3.
Differential Methylation of Telomere-Related Genes Is Associated with Kidney Disease in Individuals with Type 1 Diabetes.
Genes (Basel)
; 14(5)2023 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239390
4.
A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland.
Genes (Basel)
; 13(7)2022 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885887
5.
Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease.
Nat Commun
; 13(1): 7891, 2022 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36550108
6.
A GREM1 gene variant associates with diabetic nephropathy.
J Am Soc Nephrol
; 21(5): 773-81, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20150533
7.
Resequencing of the CCL5 and CCR5 genes and investigation of variants for association with diabetic nephropathy.
J Hum Genet
; 55(4): 248-51, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20203694
8.
Genetic Strategies to Understand Human Diabetic Nephropathy: Wet-Lab Approaches.
Methods Mol Biol
; 2067: 205-240, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701455
9.
Validation of differentially methylated microRNAs identified from an epigenome-wide association study; Sanger and next generation sequencing approaches.
BMC Res Notes
; 11(1): 767, 2018 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30373632
10.
Development of next generation sequencing panel for UMOD and association with kidney disease.
PLoS One
; 12(6): e0178321, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28609449
11.
Design and implementation of a custom next generation sequencing panel for selected vitamin D associated genes.
BMC Res Notes
; 10(1): 348, 2017 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28754147