F Emma

Summary

Country: Italy

Publications

  1. ncbi Acquired glomerulocystic kidney disease following hemolytic uremic syndrome
    F Emma
    Division of Nephrology, Children s Hospital and Research Institute Bambino Gesu, Rome, Italy
    Pediatr Nephrol 16:557-60. 2001
  2. ncbi Long-term linear growth of children with severe steroid-responsive nephrotic syndrome
    Francesco Emma
    Division of Nephrology, Children s Hospital and Research Institute Bambino Gesu, Piazza S Onofrio 4, 00165 Rome, Italy
    Pediatr Nephrol 18:783-8. 2003
  3. ncbi "Bartter-like" phenotype in Kearns-Sayre syndrome
    Francesco Emma
    Department of Nephrology and Urology, Division of Nephrology, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
    Pediatr Nephrol 21:355-60. 2006
  4. ncbi Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
    Miriam Iannicelli
    Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
    Hum Mutat 31:E1319-31. 2010
  5. ncbi RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F Brancati
    Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
    Clin Genet 74:164-70. 2008
  6. ncbi Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype
    A Taranta
    Department of Nephrology and Urology, Division of Nephrology, Bambino Gesu Children s Hospital, Piazza S Onofrio, 4, 00165 Rome, Italy
    Clin Nephrol 67:1-4. 2007
  7. ncbi Serum creatinine levels are significantly influenced by renal size in the normal pediatric population
    Giacomo Di Zazzo
    Department of Nephrology and Urology, Division of Nephrology and Dialysis, Bambino Gesu Children s Hospital, Rome, Italy
    Clin J Am Soc Nephrol 6:107-13. 2011
  8. ncbi Broadening the spectrum of diseases related to podocin mutations
    Gianluca Caridi
    Laboratory on Pathophysiology of Uremia, Istituto G Gaslini, 16148 Genoa, Italy
    J Am Soc Nephrol 14:1278-86. 2003
  9. ncbi Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome
    Roberta Oleggini
    Department of Clinical Medicine, Nephrology and Health Sciences, University of Parma, Italy
    Gene Expr 13:59-66. 2006
  10. ncbi Glomerulocystic kidney disease in hypomelanosis of Ito
    Gianluca Vergine
    Department of Nephrology and Urology, Division of Nephrology and Dialysis, Bambino Gesu Children s Hospital and Research Institute, Piazza S Onofrio 4, Rome, Italy
    Pediatr Nephrol 23:1183-7. 2008

Detail Information

Publications22

  1. ncbi Acquired glomerulocystic kidney disease following hemolytic uremic syndrome
    F Emma
    Division of Nephrology, Children s Hospital and Research Institute Bambino Gesu, Rome, Italy
    Pediatr Nephrol 16:557-60. 2001
    ..We speculate that cystic dilatation of the Bowman's capsule may be secondary to ischemic lesions leading to proximal tubular obstruction...
  2. ncbi Long-term linear growth of children with severe steroid-responsive nephrotic syndrome
    Francesco Emma
    Division of Nephrology, Children s Hospital and Research Institute Bambino Gesu, Piazza S Onofrio 4, 00165 Rome, Italy
    Pediatr Nephrol 18:783-8. 2003
    ..In conclusion, children with severe steroid-responsive NS are at risk of permanent growth retardation secondary to prolonged courses of steroid treatment...
  3. ncbi "Bartter-like" phenotype in Kearns-Sayre syndrome
    Francesco Emma
    Department of Nephrology and Urology, Division of Nephrology, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
    Pediatr Nephrol 21:355-60. 2006
    ..In these cases aldosterone-responsive tubular structures have been spared during renal embryogenesis, allowing for the development of hypokalaemic alkalosis in response to salt and water losses from the more damaged tubular segments...
  4. ncbi Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
    Miriam Iannicelli
    Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
    Hum Mutat 31:E1319-31. 2010
    ..These exons encode for a region of unknown function in the extracellular domain of meckelin...
  5. ncbi RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F Brancati
    Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
    Clin Genet 74:164-70. 2008
    ..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...
  6. ncbi Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype
    A Taranta
    Department of Nephrology and Urology, Division of Nephrology, Bambino Gesu Children s Hospital, Piazza S Onofrio, 4, 00165 Rome, Italy
    Clin Nephrol 67:1-4. 2007
    ..The aim of the present study was to characterize PAX2 mutations in a renal coloboma syndrome family with a highly variable phenotype...
  7. ncbi Serum creatinine levels are significantly influenced by renal size in the normal pediatric population
    Giacomo Di Zazzo
    Department of Nephrology and Urology, Division of Nephrology and Dialysis, Bambino Gesu Children s Hospital, Rome, Italy
    Clin J Am Soc Nephrol 6:107-13. 2011
    ..We hypothesized that a significant proportion of the variance in GFR, as estimated by serum creatinine, is attributable to differences in renal size in normal children...
  8. ncbi Broadening the spectrum of diseases related to podocin mutations
    Gianluca Caridi
    Laboratory on Pathophysiology of Uremia, Istituto G Gaslini, 16148 Genoa, Italy
    J Am Soc Nephrol 14:1278-86. 2003
    ..A suggested alternative is the involvement of other gene(s) or factor(s)...
  9. ncbi Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome
    Roberta Oleggini
    Department of Clinical Medicine, Nephrology and Health Sciences, University of Parma, Italy
    Gene Expr 13:59-66. 2006
    ..USF1 was identified as the transcriptional factor regulating NPHS2 at this site. Even if not sufficient to cause FSGS per se, these variants could represent modifiers for severity and/or progression of the disease...
  10. ncbi Glomerulocystic kidney disease in hypomelanosis of Ito
    Gianluca Vergine
    Department of Nephrology and Urology, Division of Nephrology and Dialysis, Bambino Gesu Children s Hospital and Research Institute, Piazza S Onofrio 4, Rome, Italy
    Pediatr Nephrol 23:1183-7. 2008
    ....
  11. ncbi COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement
    Francesca Diomedi-Camassei
    Divisions of Pathology, Department of Laboratory Medicine, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
    J Am Soc Nephrol 18:2773-80. 2007
    ..COQ2 nephropathy should be suspected when electron microscopy shows an increased number of abnormal mitochondria in podocytes and other glomerular cells...
  12. ncbi Inflammatory response to cardiac bypass in ewe fetuses: effects of steroid administration or continuous hemodiafiltration
    Adriano Carotti
    Department of Pediatric Cardiology and Cardiac Surgery, Ospedale Bambino Gesu, Rome, Italy
    J Thorac Cardiovasc Surg 126:1839-50. 2003
    ....
  13. ncbi Angiotensin-converting enzyme (ACE) haplotypes and cyclosporine A (CsA) response: a model of the complex relationship between ACE quantitative trait locus and pathological phenotypes
    Paolo Catarsi
    Department of Nephrology, G Gaslini Institute, Genova, Italy
    Hum Mol Genet 14:2357-67. 2005
    ....
  14. ncbi Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin
    Roberta Bertelli
    Laboratory on Pathophysiology of Uremia, G. Gaslini Children's Hospital, Genoa, Italy
    Am J Kidney Dis 41:1314-21. 2003
    ..Recurrence of an apparently inherited disease should stimulate a critical review of the mechanisms of recurrence and of original proteinuria in these cases...
  15. ncbi Association of the macrophage migration inhibitory factor -173*C allele with childhood nephrotic syndrome
    Marina Vivarelli
    Unita Operativa di Nefrologia e Dialisi, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
    Pediatr Nephrol 23:743-8. 2008
    ....
  16. ncbi Lack of cardiac anomalies in children with NPHS2 mutations
    Gianluca Caridi
    Nephrol Dial Transplant 22:1477-9. 2007
  17. ncbi Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family
    Marco Zaffanello
    Department of Nephrology and Urology, Division of Nephrology and Dialysis, Children's Hospital and Research Institute Bambino Gesu, Rome, Italy
    Am J Med Genet A 140:2336-40. 2006
    ..The coexistence of a chronic tubulo-interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes...
  18. ncbi Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study
    Enrica Tosetto
    Division of Nephrology, Department of Medical and Surgical Sciences, University of Padua, Via Giustiniani, 2 35128 Padova, Italy
    Nephrol Dial Transplant 21:2452-63. 2006
    ....
  19. ncbi Cyclosporine in patients with steroid-resistant nephrotic syndrome: an open-label, nonrandomized, retrospective study
    Gian Marco Ghiggeri
    Department of Nephrology, G Gaslini Children s Hospital, Genova, Italy
    Clin Ther 26:1411-8. 2004
    ..In the past decade, immunosuppressive drugs such as cyclosporine (CsA) and cyclophosphamide have been introduced for the treatment of SRNS, but data on long-term clinical outcome (over years) are lacking...
  20. ncbi Type IV Bartter syndrome: report of two new cases
    Marco Zaffanello
    Division of Nephrology and Dialysis, Department of Nephrology and Urology, Ospedale Bambino Ges, Piazza S. Onofrio 4, 00165 Rome, Italy
    Pediatr Nephrol 21:766-70. 2006
    ..In one patient, a combined therapy with indomethacin and captopril was needed to discontinue intravenous fluids and improve weight gain...
  21. ncbi Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblasts
    Liliana Mannucci
    Department of Nephrology and Urology, , Rome, Italy
    Pediatr Res 59:332-5. 2006
    ..Together, these results support the hypothesis that cysteine derived from lysosomal cystine efflux limits the activity of the gamma-glutamyl cycle and GSH synthesis...
  22. ncbi Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy
    Gianluca Caridi
    Laboratory on Pathophysiology of Uremia, G. Gaslini Children Hospital, Largo G. Gaslini 5, 16148 Genova, Italy
    Nephrol Dial Transplant 21:2301-3. 2006