1-13 of 13
Authors: John Sayer
Journal Article
Dent disease: clinical practice recommendations
Nephrology Dialysis Transplantation, Volume 40, Issue 5, May 2025, Pages 852–864, https://doi.org/10.1093/ndt/gfaf003
Published: 10 January 2025
Journal Article
#1472 Prevalence of Mendelian and non-Mendelian forms of genetic disease in a Swiss cohort of adult kidney stone formers
Nephrology Dialysis Transplantation, Volume 39, Issue Supplement_1, May 2024, gfae069-0125-1472, https://doi.org/10.1093/ndt/gfae069.125
Published: 23 May 2024
Journal Article
#2613 Clinical spectrum and prognosis of the atypical polycystic kidney disease caused by monoallelic loss-of-function IFT140 variants
Nephrology Dialysis Transplantation, Volume 39, Issue Supplement_1, May 2024, gfae069-0119-2613, https://doi.org/10.1093/ndt/gfae069.119
Published: 23 May 2024
Journal Article
#1936 Investigating genetic and environmental modifiers of autosomal dominant polycystic kidney disease through a distinct PKD2-founder variant (p.Arg803*)
Nephrology Dialysis Transplantation, Volume 39, Issue Supplement_1, May 2024, gfae069-0005-1936, https://doi.org/10.1093/ndt/gfae069.005
Published: 23 May 2024
Journal Article
#3020 A novel copy number analysis identifies human patients with NPHP1 whole gene deletions in previously genetically unsolved cases
Nephrology Dialysis Transplantation, Volume 39, Issue Supplement_1, May 2024, gfae069-0243-3020, https://doi.org/10.1093/ndt/gfae069.243
Published: 23 May 2024
Journal Article
#3166 RECOGNITION OF RENAL TUBULAR DYSGENESIS IN ADOLESCENT CKD BY BIALLELIC AGT VARIANTS REQUIRED BROAD GENETIC ANALYSIS
Nephrology Dialysis Transplantation, Volume 38, Issue Supplement_1, June 2023, gfad063c_3166, https://doi.org/10.1093/ndt/gfad063c_3166
Published: 14 June 2023
Journal Article
MO042: Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease
Nephrology Dialysis Transplantation, Volume 37, Issue Supplement_3, May 2022, gfac062.023, https://doi.org/10.1093/ndt/gfac062.023
Published: 03 May 2022
Journal Article
FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy
Nephrology Dialysis Transplantation, Volume 37, Issue Supplement_3, May 2022, gfac104.004, https://doi.org/10.1093/ndt/gfac104.004
Published: 03 May 2022
Journal Article
FC 014INFLUENCE OF GENETIC VARIATION IN SLC7A13/AGT1 IN HUMAN CYSTINURIA
Nephrology Dialysis Transplantation, Volume 36, Issue Supplement_1, May 2021, gfab131.004, https://doi.org/10.1093/ndt/gfab131.004
Published: 29 May 2021
Journal Article
MO040REAL-WORLD USE OF TOLVAPTAN AND ITS IMPACT ON EGFR IN A NORTH EAST UK COHORT
Nephrology Dialysis Transplantation, Volume 36, Issue Supplement_1, May 2021, gfab080.0012, https://doi.org/10.1093/ndt/gfab080.0012
Published: 29 May 2021
Journal Article
MO039IDENTIFICATION OF A RECURRENT SYNONYMOUS GENETIC VARIANT IN NPHP3 LEADING TO NEPHRONOPHTHISIS AND CONGENITAL HEPATIC FIBROSIS
Nephrology Dialysis Transplantation, Volume 36, Issue Supplement_1, May 2021, gfab080.0011, https://doi.org/10.1093/ndt/gfab080.0011
Published: 29 May 2021
Journal Article
MO004PRIMARY BILIARY CHOLANGITIS PRESENTING WITH RENAL FANCONI SYNDROME: A FORGOTTEN PHENOTYPE
Nephrology Dialysis Transplantation, Volume 36, Issue Supplement_1, May 2021, gfab077.004, https://doi.org/10.1093/ndt/gfab077.004
Published: 29 May 2021
Journal Article
SO094HUMAN URINE-DERIVED RENAL EPITHELIAL CELLS PROVIDE INSIGHTS INTO THE PATHOGENICITY OF PKHD1 VARIANTS
Nephrology Dialysis Transplantation, Volume 35, Issue Supplement_3, June 2020, gfaa139.SO094, https://doi.org/10.1093/ndt/gfaa139.SO094
Published: 06 June 2020
