Detalhe da pesquisa
1.
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease.
Kidney Int
; 104(5): 975-984, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414395
2.
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.
Pediatr Nephrol
; 38(6): 1793-1800, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36357634
3.
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
J Am Soc Nephrol
; 32(9): 2273-2290, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400539
4.
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
J Am Soc Nephrol
; 31(2): 365-373, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919107
5.
Implementation of a Digitally Enabled Care Pathway (Part 1): Impact on Clinical Outcomes and Associated Health Care Costs.
J Med Internet Res
; 21(7): e13147, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368447
6.
Crescentic glomerulonephritis with anti-GBM antibody but no glomerular deposition.
BMC Nephrol
; 19(1): 228, 2018 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30208856
7.
Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.
Kidney Int Rep
; 8(8): 1562-1574, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37547536
8.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
medRxiv
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196618
9.
Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.
Sci Rep
; 12(1): 11257, 2022 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35789182
10.
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Sci Rep
; 12(1): 2722, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35177655
11.
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
Elife
; 112022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36124557
12.
Evaluation of a digitally-enabled care pathway for acute kidney injury management in hospital emergency admissions.
NPJ Digit Med
; 2: 67, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31396561
13.
Differences in Prevalence of Muscle Weakness (Sarcopenia) in Haemodialysis Patients Determined by Hand Grip Strength Due to Variation in Guideline Definitions of Sarcopenia.
Nutr Clin Pract
; 33(2): 255-260, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29377324
14.
Chronic kidney disease-associated cardiovascular disease: scope and limitations of animal models.
Cardiovasc Endocrinol
; 6(4): 120-127, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646129
15.
New and developing therapies for AL amyloidosis.
Expert Opin Pharmacother
; 18(2): 139-149, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002971
16.
Service evaluation of the implementation of a digitally-enabled care pathway for the recognition and management of acute kidney injury.
F1000Res
; 6: 1033, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28751970