1. Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins. Issue 1 (4th April 2022) Authors: Gupta, Neha; D'Acierno, Mariavittoria; Zona, Enrica; Capasso, Giovambattista; Zacchia, Miriam Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Brain dysfunction in tubular and tubulointerstitial kidney diseases. (18th November 2021) Authors: Viggiano, Davide; Bruchfeld, Annette; Carriazo, Sol; de Donato, Antonio; Endlich, Nicole; Ferreira, Ana Carina; Figurek, Andreja; Fouque, Denis; Franssen, Casper F M; Giannakou, Konstantinos; Goumenos, Dimitrios; Hoorn, Ewout J; Nitsch, Dorothea; Ortiz, Alberto; Pešić, Vesna; Rastenyté, Daiva; So... Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 2 Page Start: ii46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. Issue 1 (December 2017) Authors: Esposito, Gabriella; Testa, Francesco; Zacchia, Miriam; Crispo, Anna; Di Iorio, Valentina; Capolongo, Giovanna; Rinaldi, Luca; D'Antonio, Marcella; Fioretti, Tiziana; Iadicicco, Pasquale; Rossi, Settimio; Franzè, Annamaria; Marciano, Elio; Capasso, Giovanbattista; Simonelli, Francesca; Salvatore,... Journal: BMC medical genetics Issue: Volume 18:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Guidelines for Genetic Testing and Management of Alport Syndrome. Issue 1 (January 2022) Authors: Savige, Judy; Lipska-Zietkiewicz, Beata S.; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, ... Journal: Clinical journal of the American Society of Nephrology Issue: Volume 17:Issue 1(2022) Page Start: 143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. MiRNA-23a modulates sodium-hydrogen exchanger 1 expression: studies in medullary thick ascending limb of salt-induced hypertensive rats. Issue 3 (3rd August 2022) Authors: Lombari, Patrizia; Mallardo, Massimo; Petrazzuolo, Oriana; Amruthraj Nagoth, Joseph; Fiume, Giuseppe; Scanni, Roberto; Iervolino, Anna; Damiano, Sara; Coppola, Annapaola; Borriello, Margherita; Ingrosso, Diego; Perna, Alessandra F; Zacchia, Miriam; Trepiccione, Francesco; Capasso, Giovambattista Journal: Nephrology dialysis transplantation Issue: Volume 38:Issue 3(2023) Page Start: 586 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. MO035COMPUTATIONAL MODELING APPROACH FOR THE COMPREHENSIVE INTERPRETATION OF RARE TUBULOPATHIES. (29th May 2021) Authors: Suzumoto, Yoko; Columbano, Valeria; Capolongo, Giovanna; Simeoni, Mariadelina; Perna, Alessandra; Zacchia, Miriam; Viggiano, Davide; Capasso, Giovambattista; Trepiccione, Francesco Journal: Nephrology dialysis transplantation Issue: Volume 36(2021)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MO045THE APPLICATION OF A NGS KIDNEY PANEL REVEALED KEY CHALLENGES OF PKD1-2 ANALYSIS: INTERPRETATION OF MISSENSE VARIANTS, SIGNIFICANCE OF VARIANTS IN DUPLICATED REGIONS AND HIGH ALLELIC HETEROGENEITY. (29th May 2021) Authors: Blasio, Giancarlo; Zacchia, Miriam; Del Vecchio Blanco, Francesca; Capolongo, Giovanna; Perna, Alessandra; Nigro, Vincenzo; Capasso, Giovambattista Journal: Nephrology dialysis transplantation Issue: Volume 36(2021)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. P0031AURINE METABOLOMICS: AN EMERGING TOOL FOR DISSECTING BIOLOGICAL ABERRATIONS UNDERLYING RENAL DYSFUNCTION IN BARDET-BIEDL SYNDROME. (6th June 2020) Authors: Zacchia, Miriam; Marchese, Emanuela; Caterino, Marianna; Ruoppolo, Margherita; Capasso, Giovambattista Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Proteomics and metabolomics studies exploring the pathophysiology of renal dysfunction in autosomal dominant polycystic kidney disease and other ciliopathies. Issue 11 (20th June 2019) Authors: Zacchia, Miriam; Marchese, Emanuela; Trani, Elena Martina; Caterino, Marianna; Capolongo, Giovanna; Perna, Alessandra; Ruoppolo, Margherita; Capasso, Giovambattista Journal: Nephrology dialysis transplantation Issue: Volume 35:Issue 11(2020) Page Start: 1853 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Vitamin-D status and mineral metabolism in two ethnic populations with sarcoidosis. Issue 5 (6th April 2016) Authors: Capolongo, Giovanna; Xu, Li Hao Richie; Accardo, Mariasofia; Sanduzzi, Alessandro; Stanziola, Anna Agnese; Colao, Annamaria; Agostini, Carlo; Zacchia, Miriam; Capasso, Giovambattista; Adams-Huet, Beverley; Moe, Orson W; Maalouf, Naim M; Sakhaee, Khashayar; Hsia, Connie C W Journal: Journal of investigative medicine Issue: Volume 64:Issue 5(2016) Page Start: 1025 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗