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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG. Sanna-Cherchi S, et al. Among authors: ardissino g. Am J Hum Genet. 2017 Dec 7;101(6):1034. doi: 10.1016/j.ajhg.2017.11.003. Am J Hum Genet. 2017. PMID: 29220675 Free PMC article. No abstract available.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG. Sanna-Cherchi S, et al. Among authors: ardissino g. Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Am J Hum Genet. 2017. PMID: 29100090 Free PMC article.
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.
Gigante M, Santangelo L, Diella S, Caridi G, Argentiero L, D''Alessandro MM, Martino M, Stea ED, Ardissino G, Carbone V, Pepe S, Scrutinio D, Maringhini S, Ghiggeri GM, Grandaliano G, Giordano M, Gesualdo L. Gigante M, et al. Among authors: ardissino g. Nephron. 2016;133(3):193-204. doi: 10.1159/000446663. Epub 2016 Jul 9. Nephron. 2016. PMID: 27394135
Best practice guidelines for idiopathic nephrotic syndrome: recommendations versus reality.
Pasini A, Aceto G, Ammenti A, Ardissino G, Azzolina V, Bettinelli A, Cama E, Cantatore S, Crisafi A, Conti G, D'Agostino M, Dozza A, Edefonti A, Fede C, Groppali E, Gualeni C, Lavacchini A, Lepore M, Maringhini S, Mariotti P, Materassi M, Mencarelli F, Messina G, Negri A, Piepoli M, Ravaglia F, Simoni A, Spagnoletta L, Montini G; NefroKid Study Group. Pasini A, et al. Among authors: ardissino g. Pediatr Nephrol. 2015 Jan;30(1):91-101. doi: 10.1007/s00467-014-2903-7. Epub 2014 Aug 17. Pediatr Nephrol. 2015. PMID: 25127916 Free PMC article. Clinical Trial.
160 results