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1.
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort.
Lancet
; 403(10433): 1279-1289, 2024 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38492578
2.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37598857
3.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32710489
4.
Young adults have worse kidney transplant outcomes than other age groups.
Nephrol Dial Transplant
; 35(6): 1043-1051, 2020 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32459843
5.
Patient and clinician opinions of patient reported outcome measures (PROMs) in the management of patients with rare diseases: a qualitative study.
Health Qual Life Outcomes
; 18(1): 177, 2020 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32522194
6.
Patient-reported outcome measures used in patients with primary sclerosing cholangitis: a systematic review.
Health Qual Life Outcomes
; 16(1): 133, 2018 Jul 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29976215
7.
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland.
Kidney Int
; 92(5): 1261-1271, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28750931
8.
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Kidney Int
; 91(4): 937-947, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28117080
9.
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.
Kidney Int
; 90(1): 203-11, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27234567
10.
Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry.
Am J Kidney Dis
; 68(5): 782-788, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27555106
11.
Decline in Left Ventricular Early Systolic Function with Worsening Kidney Function in Children with Chronic Kidney Disease: Insights from the 4C and HOT-KID Studies.
J Am Soc Echocardiogr
; 37(3): 356-363.e1, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-37993063
12.
Intensive compared with less intensive blood pressure control to prevent adverse cardiac remodelling in children with chronic kidney disease (HOT-KID): a parallel-group, open-label, multicentre, randomised, controlled trial.
Lancet Child Adolesc Health
; 7(1): 26-36, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36442482
13.
Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.
Orphanet J Rare Dis
; 18(1): 364, 2023 Nov 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37996938
14.
Systemic arterial hypertension in children following renal transplantation: prevalence and risk factors.
Nephrol Dial Transplant
; 27(8): 3359-68, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22328733
15.
Progression to hypertension in non-hypertensive children following renal transplantation.
Nephrol Dial Transplant
; 27(7): 2990-6, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22287656
16.
Expression of Fraser syndrome genes in normal and polycystic murine kidneys.
Pediatr Nephrol
; 27(6): 991-8, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21993971
17.
Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study.
Orphanet J Rare Dis
; 17(1): 171, 2022 04 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-35443702
18.
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
J Pediatr
; 165(3): 611-7, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25015577
19.
Improved long-term graft function in pediatric transplant renal recipients with chronic allograft nephropathy.
Pediatr Transplant
; 13(3): 324-31, 2009 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-18537899
20.
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.
Orphanet J Rare Dis
; 14(1): 91, 2019 04 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-31039793