Detalhe da pesquisa
1.
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Am J Hum Genet
; 109(8): 1484-1499, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896117
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38492578
3.
A case of acute tubulointerstitial nephritis following administration of the Oxford-AstraZeneca COVID-19 vaccine: a case report.
BMC Nephrol
; 24(1): 52, 2023 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36918813
4.
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.
BMC Nephrol
; 18(1): 234, 2017 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28701203
5.
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.
Kidney Int
; 90(1): 203-11, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27234567
6.
Prevention of recurrence of atypical hemolytic uremic syndrome post renal transplant with the use of higher-dose eculizumabâ©.
Clin Nephrol
; 86(10): 200-2, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616760
7.
Factors determining penetrance in familial atypical haemolytic uraemic syndrome.
J Med Genet
; 51(11): 756-64, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25261570
8.
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a ß cell phenotype.
J Med Genet
; 51(3): 165-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24285859
9.
Familial interstitial nephritis: 42 years from case series to genetic diagnosis.
Clin Nephrol
; 91(6): 386-388, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30686289
10.
Acute tubulointerstitial nephritis, treatment with steroid and impact on renal outcomes.
Nephrology (Carlton)
; 17(8): 748-53, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22817666
11.
Hypogammaglobulinemia and bronchiectasis in mycophenolate mofetil-treated renal transplant recipients: an emerging clinical phenomenon?
Clin Transplant
; 25(3): 417-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20438577
12.
Mutations in the hepatocyte nuclear factor-1ß (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.
Am J Obstet Gynecol
; 203(4): 364.e1-5, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20633866
13.
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
J Am Soc Nephrol
; 20(5): 1123-31, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19389850
14.
IgA Nephropathy Genetic Risk Score to Estimate the Prevalence of IgA Nephropathy in UK Biobank.
Kidney Int Rep
; 5(10): 1643-1650, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33102956
15.
Transcription factor HNF1beta and novel partners affect nephrogenesis.
Kidney Int
; 74(2): 210-7, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18418350
16.
Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.
Nephrol Dial Transplant
; 23(2): 627-35, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17971380
17.
Comment on a recent article titled 'Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia'.
J Diabetes Investig
; 2023 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38140853
18.
Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion.
Clin Epigenetics
; 10(1): 97, 2018 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30021660
19.
Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1ß-associated renal disease and can be symptomatic.
Clin Kidney J
; 11(4): 453-458, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30094008
20.
Meningococcal B Vaccine Failure With a Penicillin-Resistant Strain in a Young Adult on Long-Term Eculizumab.
Pediatrics
; 140(3)2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28864711