Genomes and Genes
- Renal hypoplasia without optic coloboma associated with PAX2 gene deletionElisa Benetti
Nephrology, Dialysis and Transplant Unit, Laboratory of Paediatric Nephrology, Clinical Genetics and Epidemiology Service, Department of Paediatrics, University of Padova, Italy
Nephrol Dial Transplant 22:2076-8. 2007
- Immature renal structures associated with a novel UMOD sequence variantElisa Benetti
Pediatric Nephrology, Dialysis, and Transplantation Unit, Department of Pediatrics, University of Padua, Padova, Italy
Am J Kidney Dis 53:327-31. 2009....
- 10p12.1 deletion: HDR phenotype without DGS2 featuresElisa Benetti
Pediatric Nephrology, Dialysis and Transplantation Unit, Department of Pediatrics, University of Padua, Via Giustiniani, 3, 35128 Padua, Italy
Exp Mol Pathol 86:74-6. 2009..This peculiarity suggests the hypothesis that the mechanisms underlying this syndrome may be more complex. It is therefore possible that DGS2 may be determined by locus heterogeneity...
- A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosisElisa Benetti
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics, University of Padova, Via Giustiniani 3, 35128 Padova, Italy
Clin J Am Soc Nephrol 5:698-702. 2010..Few familial cases have been described, with intrafamilial variability. Sporadic cases of WT1 mutations in isolated diffuse mesangial sclerosis or focal segmental glomerulosclerosis have also been reported...
- Clinico-pathological correlation in duplex system ectopic ureters and ureteroceles: can preoperative work-up predict renal histology?Davide Meneghesso
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics, University Hospital of Padova, Padua, Italy
Pediatr Surg Int 28:309-14. 2012..Upper pole histology has been poorly investigated in duplex system ectopic ureters and ureteroceles. We aimed to determine the differences in histology between the conditions, and to identify clinical markers of renal damage...
- SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tractSusanna Negrisolo
Laboratory of Immunopathology and Molecular Biology of the Kidney, Women s and Children s Health Department, University of Padua, Via Giustiniani 3, 35128, Padua, Italy
J Nephrol 27:667-71. 2014..Our study focuses on whether mutations or deletion of this gene may be associated with nonsyndromic CAKUT...
- mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosisElisa Benetti
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics, University of Padua, Padua, Italy
Saudi J Kidney Dis Transpl 25:854-7. 2014..This technique had never been applied to a NPHS2 mutation. Based on these results, immunosuppressive drugs were discontinued and conservative therapy was undertaken...
- Investigation of intrarenal viral infections in kidney transplant recipients unveils an association between parvovirus B19 and chronic allograft injuryLuisa Barzon
Department of Histology, Microbiology, and Medical Biotechnologies, University of Padova, Padova, Italy
J Infect Dis 199:372-80. 2009..The present study investigated systemic and intrarenal viral infections in kidney transplant recipients and their association with the risk of acute rejection and chronic allograft injuries that are predictive of long-term dysfunction...
- Transplant renal artery stenosis in children: risk factors and outcome after endovascular treatmentGiulia Ghirardo
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics, University Hospital of Padua, Via Giustiniani 2, 35128, Padova, Italy
Pediatr Nephrol 29:461-7. 2014..Transplant renal artery stenosis (TRAS) is an increasingly recognised cause of post-transplant hypertension...
- The impact of eNOS, MTR and MTHFR polymorphisms on renal graft survival in children and young adultsLina Artifoni
Department of Paediatrics, University of Padua, Italy
Nephrol Dial Transplant 24:2931-7. 2009..Functional polymorphisms of the endothelial isoform of nitric oxide synthase (NOS) gene cause an alteration in nitric oxide production. Nitric oxide levels, and thus oxidative stress, are also influenced by hyperhomocysteinaemia...
- Upper urinary tract infections are associated with RANTES promoter polymorphismSonia Centi
Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Pediatrics Salus Pueri, University of Padua, Italy
J Pediatr 157:1038-1040.e1. 2010..Statistical analysis of RANTES-403 G>A genotype frequencies showed that children carrying the RANTES-403 G allele are at higher risk for urinary tract infection, irrespective of vesicoureteral reflux...
- Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathyGianluca Caridi
Laboratory on Pathophysiology of Uremia and Division of Nephrology, Dialysis, Transplantation, Istituto Giannina Gaslini, Genova, Italy
Nephrol Dial Transplant 29:iv80-6. 2014..A few patients present neurological symptoms of Charcot-Marie-Tooth (CMT) disease but the prevalence of the association has not been assessed yet...
- Plasmapheresis-resistant acute humoral rejection successfully treated with anti-C5 antibodyGiulia Ghirardo
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics, University Hospital of Padua, Padua, Italy
Pediatr Transplant 18:E1-5. 2014..Two yr after transplantation, graft function is stable. Anti-C5 therapy may represent an effective therapeutic option in pediatric patients with PP-resistant AMR...
- Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasiaLuisa Murer
Paediatric Nephrology, Dialysis and Transplant Unit, Department of Paediatrics, University of Padova, Padova, Italy
Pediatr Nephrol 22:788-97. 2007..The present teaching paper is an overview of the embryology and genetics of primary VUR and associated congenital reflux nephropathy...
- Microperimetry, fundus autofluorescence, and retinal layer changes in progressing geographic atrophyElisabetta Pilotto
Department of Ophthalmology, University of Padova, Padova
Can J Ophthalmol 48:386-93. 2013..To analyze correlation among microperimetry, inner and outer retinal layers, and fundus autofluorescence (FAF) changes in eyes with progressing geographic atrophy (GA) secondary to age-related macular degeneration...
- Generation of endogenous hydrogen sulfide by cystathionine gamma-lyase limits renal ischemia/reperfusion injury and dysfunctionPinpat Tripatara
Centre for Translational Medicine and Therapeutics, William Harvey Research Institute, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary University of London, London, UK
Lab Invest 88:1038-48. 2008....