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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
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- Journal of Clinical Investigation, 2013, v. 123, n. 8, p. 3243, doi. 10.1172/JCI69134
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- Article
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.
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- Nephrology Dialysis Transplantation, 2022, v. 37, n. 12, p. 2496, doi. 10.1093/ndt/gfac006
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- Article
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2132, doi. 10.1002/ajmg.a.38285
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- Article
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
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- Kidney International, 2014, v. 86, n. 6, p. 1197, doi. 10.1038/ki.2014.222
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- Article
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
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- Kidney International, 2014, v. 86, n. 3, p. 589, doi. 10.1038/ki.2014.72
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- Article
Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0416-5
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- Article
A Novel Large In-Frame Deletion within the <i>CACNA1F</i> Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076414
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- Article
Kidney Stones in Primary Hyperoxaluria: New Lessons Learnt.
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- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070617
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- Article
Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited.
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- Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3265, doi. 10.3390/jcm10153265
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- Article
Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.
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- Pediatric Nephrology, 2024, v. 39, n. 1, p. 125, doi. 10.1007/s00467-023-06079-6
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- Article
The retinal phenotype in primary hyperoxaluria type 2 and 3.
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- Pediatric Nephrology, 2023, v. 38, n. 5, p. 1485, doi. 10.1007/s00467-022-05765-1
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- Article
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 162, doi. 10.1038/ejhg.2012.139
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- Article
Genetische Nierensteinerkrankungen.
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- Medizinische Genetik, 2018, v. 30, n. 4, p. 438, doi. 10.1007/s11825-018-0227-x
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- Article
Steroid-resistentes nephrotisches Syndrom.
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- Medizinische Genetik, 2018, v. 30, n. 4, p. 410, doi. 10.1007/s11825-018-0215-1
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- Article
Autosomal Tubulointerstitial Kidney Disease—MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells.
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- Proteomics, 2018, v. 18, n. 7, p. 1, doi. 10.1002/pmic.201700456
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- Article
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
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- Kidney & Blood Pressure Research, 2015, v. 40, n. 5, p. 443, doi. 10.1159/000368520
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- Article
Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland.
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- American Journal of Case Reports, 2021, p. 1, doi. 10.12659/AJCR.928994
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- Article
Hypomagnesemia is underestimated in children with HNF1B mutations.
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- Pediatric Nephrology, 2020, v. 35, n. 10, p. 1877, doi. 10.1007/s00467-020-04576-6
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- Article
Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study.
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- Pediatric Nephrology, 2019, v. 34, n. 12, p. 2591, doi. 10.1007/s00467-019-04330-7
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- Article
HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
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- Pediatric Nephrology, 2019, v. 34, n. 6, p. 1065, doi. 10.1007/s00467-018-4188-8
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- Article
Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III.
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- 2018
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- Publication type:
- Correction Notice
Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis.
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- Pediatric Nephrology, 2003, v. 18, n. 10, p. 996, doi. 10.1007/s00467-003-1229-7
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- Article
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
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- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1152, doi. 10.1093/hmg/ddv638
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- Publication type:
- Article
Inhomogeneous Longitudinal Cardiac Rotation and Impaired Left Ventricular Longitudinal Strain in Children and Young Adults with End-Stage Renal Failure Undergoing Hemodialysis.
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- Echocardiography, 2015, v. 32, n. 8, p. 1250, doi. 10.1111/echo.12842
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- Article
Renal Allograft Calcification – Prevalence and Etiology in Pediatric Patients.
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- American Journal of Nephrology, 2009, v. 30, n. 3, p. 194, doi. 10.1159/000217585
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- Article
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
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- Human Mutation, 2020, v. 41, n. 3, p. 591, doi. 10.1002/humu.23964
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- Article
Mutation of POC1 B in a Severe Syndromic Retinal Ciliopathy.
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- Human Mutation, 2014, v. 35, n. 10, p. 1153, doi. 10.1002/humu.22618
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- Article
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.
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- Journal of Molecular Medicine, 2018, v. 96, n. 7, p. 621, doi. 10.1007/s00109-018-1651-8
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- Article
Liver cell transplantation in severe infantile oxalosis—a potential bridging procedure to orthotopic liver transplantation?
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- Nephrology Dialysis Transplantation, 2012, v. 27, n. 7, p. 2984, doi. 10.1093/ndt/gfr776
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- Article
Respiratory and general outcome in neonates with renal oligohydramnios—a single-centre experience.
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- Nephrology Dialysis Transplantation, 2011, v. 26, n. 11, p. 3514, doi. 10.1093/ndt/gfr046
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- Article
Cosmc regulates O-glycan extension in murine hepatocytes.
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- Glycobiology, 2024, v. 34, n. 10, p. 1, doi. 10.1093/glycob/cwae069
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- Article
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
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- Human Molecular Genetics, 2010, v. 19, n. 10, p. 1985, doi. 10.1093/hmg/ddq077
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- Article
Nephropathic cystinosis in Poland: a 40 -year retrospective study.
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- Polish Archives of Internal Medicine, 2022, v. 132, n. 11, p. 1, doi. 10.20452/pamw.16320
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- Article
Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.
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- Polish Archives of Internal Medicine, 2020, v. 130, n. 12, p. 1053, doi. 10.20452/pamw.15698
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- Article
cfNOMe — A single assay for comprehensive epigenetic analyses of cell-free DNA.
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- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00750-5
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- Article
The primary hyperoxalurias.
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- Kidney International, 2009, v. 75, n. 12, p. 1264, doi. 10.1038/ki.2009.32
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- Article
The Case ∣ A boy with recurrent stones.
- Published in:
- Kidney International, 2008, v. 74, n. 1, p. 133, doi. 10.1038/ki.2008.165
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- Publication type:
- Article