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Kidney health matters: a global imperative for public health.
- Published in:
- Nephrology Dialysis Transplantation, 2024, v. 39, n. 9, p. 1371, doi. 10.1093/ndt/gfae083
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- Publication type:
- Article
Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
- Published in:
- Nephrology Dialysis Transplantation, 2024, v. 39, n. 9, p. 1442, doi. 10.1093/ndt/gfae031
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- Publication type:
- Article
Ciclosporin-induced hypertension is associated with increased sodium transporter of the loop of Henle (NKCC2).
- Published in:
- Nephrology Dialysis Transplantation, 2007, v. 22, n. 10, p. 2810, doi. 10.1093/ndt/gfm390
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- Publication type:
- Article
Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1.
- Published in:
- Nephrology Dialysis Transplantation, 2007, v. 22, n. 6, p. 1567, doi. 10.1093/ndt/gfm036
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- Publication type:
- Article
Collagen type IV (α3–α4) nephropathy: from isolated haematuria to renal failure.
- Published in:
- Nephrology Dialysis Transplantation, 2004, v. 19, n. 10, p. 2429, doi. 10.1093/ndt/gfh435
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- Publication type:
- Article
Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form.
- Published in:
- Nephrology Dialysis Transplantation, 2000, v. 15, n. 9, p. 1373, doi. 10.1093/ndt/15.9.1373
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- Publication type:
- Article
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 7, p. 1175, doi. 10.1007/s00467-018-3985-4
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- Publication type:
- Article
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 6, p. 971, doi. 10.1007/s00467-013-2486-8
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- Publication type:
- Article
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 2, p. 223, doi. 10.1007/s00467-013-2657-7
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- Publication type:
- Article
Dietary Aspects and Drug-Related Side Effects in Autosomal Dominant Polycystic Kidney Disease Progression.
- Published in:
- Nutrients, 2022, v. 14, n. 21, p. 4651, doi. 10.3390/nu14214651
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- Publication type:
- Article
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.
- Published in:
- 2019
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- Publication type:
- journal article
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease.
- Published in:
- 2022
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- Publication type:
- Case Study
Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease.
- Published in:
- Biologics: Targets & Therapy, 2008, v. 2, n. 4, p. 823
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- Publication type:
- Article
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1192, doi. 10.1038/ejhg.2014.252
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- Publication type:
- Article
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
- Published in:
- 2019
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- Publication type:
- journal article
A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene.
- Published in:
- 2024
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- Publication type:
- Case Study
Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1040, doi. 10.1038/sj.ejhg.5201452
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- Publication type:
- Article
Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 487, doi. 10.1038/sj.ejhg.5200484
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- Publication type:
- Article
Analysis of published PKD1 gene sequence variants.
- Published in:
- 2007
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- Publication type:
- Letter
Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 10, p. 1906, doi. 10.1093/ndt/gfab285
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- Publication type:
- Article
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 4, p. 687, doi. 10.1093/ndt/gfab019
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- Publication type:
- Article
New therapeutic options for Alport syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2019, v. 34, n. 8, p. 1272, doi. 10.1093/ndt/gfz131
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- Publication type:
- Article
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2017, v. 32, n. 6, p. 916, doi. 10.1093/ndt/gfw095
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- Publication type:
- Article
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
- Published in:
- Nephrology Dialysis Transplantation, 2017, v. 32, n. 1, p. 151, doi. 10.1093/ndt/gfv453
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- Publication type:
- Article
Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice.
- Published in:
- Nephrology Dialysis Transplantation, 2016, v. 31, n. 3, p. 337, doi. 10.1093/ndt/gfv456
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- Publication type:
- Article
Building a network of ADPKD reference centres across Europe: the EuroCYST initiative.
- Published in:
- Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv26, doi. 10.1093/ndt/gfu091
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- Publication type:
- Article
Spanish guidelines for the management of autosomal dominant polycystic kidney disease*.
- Published in:
- Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv95
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- Publication type:
- Article
Acute renal failure associated to paroxysmal nocturnal haemoglobinuria leads to intratubular haemosiderin accumulation and CD163 expression.
- Published in:
- Nephrology Dialysis Transplantation, 2011, v. 26, n. 10, p. 3408, doi. 10.1093/ndt/gfr391
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- Publication type:
- Article
UGA hopping: a sport for nephrologists too?
- Published in:
- Nephrology Dialysis Transplantation, 2010, v. 25, n. 8, p. 2391, doi. 10.1093/ndt/gfq301
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- Publication type:
- Article
Stem cell therapy for Alport syndrome: the hope beyond the hype.
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 24, n. 3, p. 731
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- Publication type:
- Article
Study Design and Baseline Characteristics of the CARDINAL Trial: A Phase 3 Study of Bardoxolone Methyl in Patients with Alport Syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression.
- Published in:
- 2018
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- Publication type:
- journal article
A Review of the Imaging Techniques for Measuring Kidney and Cyst Volume in Establishing Autosomal Dominant Polycystic Kidney Disease Progression.
- Published in:
- 2018
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- Publication type:
- journal article
Factors Associated to Duration of Hepatitis A Outbreaks: Implications for Control.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031339
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- Publication type:
- Article
Estudio genético en pacientes jóvenes con enfermedad renal crónica avanzada de etiología no filiada. Diseño del estudio GENSEN.
- Published in:
- Nefrologia, 2024, v. 44, n. 4, p. 568, doi. 10.1016/j.nefro.2023.09.002
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- Publication type:
- Article
Respuesta a Comentarios sobre el Documento de Consenso de Poliquistosis Renal Autosómica Dominante de la SENefro.
- Published in:
- Nefrologia, 2023, v. 43, n. 1, p. 152, doi. 10.1016/j.nefro.2022.07.002
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- Publication type:
- Article
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
- Published in:
- Nefrologia, 2021, v. 41, n. 6, p. 652, doi. 10.1016/j.nefroe.2022.01.003
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- Publication type:
- Article
Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa.
- Published in:
- Nefrologia, 2020, v. 40, n. 2, p. 142, doi. 10.1016/j.nefro.2019.07.002
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- Publication type:
- Article
Nefropatía asociada a mutación del gen MYH9.
- Published in:
- Nefrologia, 2019, v. 39, n. 2, p. 133, doi. 10.1016/j.nefro.2018.08.008
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- Publication type:
- Article
A review on autosomal dominant tubulointerstitial kidney disease.
- Published in:
- Nefrologia, 2017, v. 37, n. 3, p. 235, doi. 10.1016/j.nefro.2016.10.024
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- Publication type:
- Article
Sangrado de angiomiolipoma renal en paciente con síndrome de genes contiguos (TSC2/PKD1) tras 17 años de tratamiento renal sustitutivo.
- Published in:
- Nefrologia, 2017, v. 37, n. 1, p. 87, doi. 10.1016/j.nefro.2016.04.007
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- Publication type:
- Article
Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto.
- Published in:
- Nefrologia, 2016, v. 36, n. 6, p. 616, doi. 10.1016/j.nefro.2016.05.012
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- Publication type:
- Article
Actualización en síndrome hemolítico urémico atípico: diagnóstico y tratamiento. Documento de consenso.
- Published in:
- Nefrologia, 2015, v. 35, n. 5, p. 421, doi. 10.1016/j.nefro.2015.07.005
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- Publication type:
- Article
Cistinosis en pacientes adolescentes y adultos: recomendaciones para la atención integral de la cistinosis.
- Published in:
- Nefrologia, 2015, v. 35, n. 3, p. 304, doi. 10.1016/j.nefro.2015.05.019
- By:
- Publication type:
- Article
Nefropatía intersticial crónica familiar con hiperuricemia causada por el gen UMOD.
- Published in:
- Nefrologia, 2013, v. 33, n. 4, p. 587, doi. 10.3265/Nefrologia.pre2013.Apr.11960
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- Publication type:
- Article
Familial chronic interstitial nephropathy with hyperuricaemia caused by the UMOD gene.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Actualización en síndrome hemolítico urémico atípico: diagnóstico y tratamiento. Documento de consenso.
- Published in:
- Nefrologia, 2013, v. 33, n. 1, p. 27, doi. 10.3265/Nefrologia.pre2012.Nov.11781
- By:
- Publication type:
- Article
Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
- Published in:
- Kidney International, 2015, v. 88, n. 1, p. 17, doi. 10.1038/ki.2015.59
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- Publication type:
- Article
Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations.
- Published in:
- Kidney International, 2012, v. 81, n. 8, p. 779, doi. 10.1038/ki.2011.452
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- Publication type:
- Article
Response to ‘Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease?’.
- Published in:
- 2009
- By:
- Publication type:
- Letter