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Mutations in DSTYK and dominant urinary tract malformations.
Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D'Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Among authors: dagnino m. N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17. N Engl J Med. 2013. PMID: 23862974 Free PMC article.
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.
Sanna-Cherchi S, Caridi G, Weng PL, Dagnino M, Seri M, Konka A, Somenzi D, Carrea A, Izzi C, Casu D, Allegri L, Schmidt-Ott KM, Barasch J, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Among authors: dagnino m. Am J Hum Genet. 2007 Mar;80(3):539-49. doi: 10.1086/512248. Epub 2007 Jan 26. Am J Hum Genet. 2007. PMID: 17273976 Free PMC article.
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
Caridi G, Gigante M, Ravani P, Trivelli A, Barbano G, Scolari F, Dagnino M, Murer L, Murtas C, Edefonti A, Allegri L, Amore A, Coppo R, Emma F, De Palo T, Penza R, Gesualdo L, Ghiggeri GM. Caridi G, et al. Among authors: dagnino m. Clin J Am Soc Nephrol. 2009 Jun;4(6):1065-72. doi: 10.2215/CJN.03910808. Epub 2009 Apr 30. Clin J Am Soc Nephrol. 2009. PMID: 19406966 Free PMC article.
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
Sanna-Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, Scolari F, D'Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Among authors: dagnino m. Kidney Int. 2011 Aug;80(4):389-96. doi: 10.1038/ki.2011.148. Epub 2011 Jun 22. Kidney Int. 2011. PMID: 21697813 Free article.
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
Caridi G, Lugani F, Dagnino M, Gigante M, Iolascon A, Falco M, Graziano C, Benetti E, Dugo M, Del Prete D, Granata A, Borracelli D, Moggia E, Quaglia M, Rinaldi R, Gesualdo L, Ghiggeri GM. Caridi G, et al. Among authors: dagnino m. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv80-6. doi: 10.1093/ndt/gfu071. Nephrol Dial Transplant. 2014. PMID: 25165188
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.
Caridi G, Dagnino M, Lugani F, Shalev SA, Campagnoli M, Galliano M, Spiegel R, Minchiotti L. Caridi G, et al. Among authors: dagnino m. Eur J Clin Invest. 2013 Jan;43(1):72-8. doi: 10.1111/eci.12019. Epub 2012 Nov 26. Eur J Clin Invest. 2013. PMID: 23176518
Broadening the spectrum of diseases related to podocin mutations.
Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM. Caridi G, et al. Among authors: dagnino m. J Am Soc Nephrol. 2003 May;14(5):1278-86. doi: 10.1097/01.asn.0000060578.79050.e0. J Am Soc Nephrol. 2003. PMID: 12707396
42 results