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Page 1
Renal involvement in mitochondrial cytopathies.
Emma F, Bertini E, Salviati L, Montini G. Emma F, et al. Pediatr Nephrol. 2012 Apr;27(4):539-50. doi: 10.1007/s00467-011-1926-6. Epub 2011 Jun 9. Pediatr Nephrol. 2012. PMID: 21656172 Free PMC article. Review.
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E; Italian MTS Study Group. Castori M, et al. Among authors: emma f. J Med Genet. 2005 Feb;42(2):e9. doi: 10.1136/jmg.2004.027375. J Med Genet. 2005. PMID: 15689444 Free PMC article. No abstract available.
"Bartter-like" phenotype in Kearns-Sayre syndrome.
Emma F, Pizzini C, Tessa A, Di Giandomenico S, Onetti-Muda A, Santorelli FM, Bertini E, Rizzoni G. Emma F, et al. Pediatr Nephrol. 2006 Mar;21(3):355-60. doi: 10.1007/s00467-005-2092-5. Epub 2005 Dec 29. Pediatr Nephrol. 2006. PMID: 16382326
Type IV Bartter syndrome: report of two new cases.
Zaffanello M, Taranta A, Palma A, Bettinelli A, Marseglia GL, Emma F. Zaffanello M, et al. Among authors: emma f. Pediatr Nephrol. 2006 Jun;21(6):766-70. doi: 10.1007/s00467-006-0090-x. Epub 2006 Apr 1. Pediatr Nephrol. 2006. PMID: 16583241 Free article.
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F. Diomedi-Camassei F, et al. Among authors: emma f. J Am Soc Nephrol. 2007 Oct;18(10):2773-80. doi: 10.1681/ASN.2006080833. Epub 2007 Sep 12. J Am Soc Nephrol. 2007. PMID: 17855635
Glomerulocystic kidney disease in hypomelanosis of Ito.
Vergine G, Mencarelli F, Diomedi-Camassei F, Caridi G, El Hachem M, Ghiggeri GM, Emma F. Vergine G, et al. Among authors: emma f. Pediatr Nephrol. 2008 Jul;23(7):1183-7. doi: 10.1007/s00467-008-0797-y. Epub 2008 Apr 5. Pediatr Nephrol. 2008. PMID: 18392644
283 results