Fetal abdominal wall defects von Prefumo, Federico, MD, PhD, Izzi, Claudia, MD

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Il processo canonico di nullità del matrimonio dalla codificazione post-conciliare alla riforma scaturita dalla riflessione sinodale sulla famiglia von Izzi, Claudia

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Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease von Schaeffer, Céline, De Fusco, Maurizio, Pasqualetto, Elena, Scolari, Caterina, Izzi, Claudia, Scolari, Francesco, Rampoldi, Luca

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Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein von Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi, Luca

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Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature von Agostini, Annalisa, Marchetti, Daniela, Izzi, Claudia, Cocco, Isabella, Pinelli, Lorenzo, Accorsi, Patrizia, Iascone Maria, Rosaria, Giordano, Lucio

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Pheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype Features von Giacché, Mara, Tacchetti, Maria Chiara, Agabiti-Rosei, Claudia, Torlone, Francesco, Bandera, Francesco, Izzi, Claudia, Agabiti-Rosei, Enrico

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Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis von Gregorini, Gina, Izzi, Claudia, Ravani, Pietro, Obici, Laura, Dallera, Nadia, Del Barba, Andrea, Negrinelli, Alessandro, Tardanico, Regina, Nardi, Matilde, Biasi, Luciano, Scalvini, Tiziano, Merlini, Giampaolo, Scolari, Francesco

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Uromodulin: from monogenic to multifactorial diseases: FIGURE 1 von Scolari, Francesco, Izzi, Claudia, Ghiggeri, Gian Marco

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes von Živná, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyleťal, Petr, Barešová, Veronika, Hodaňová, Kateřina, Sovová, Jana, Hartmannová, Hana, Votruba, Miroslav, Trešlová, Helena, Jedličková, Ivana, Sikora, Jakub, Hůlková, Helena, Robins, Victoria, Hnízda, Aleš, Živný, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kálmán, Häeffner, Karsten, Wolf, Matthias T.F., Bleyer, Michael E., Sayer, John A., Ong, Albert C.M., Balogh, Lídia, Jakubowska, Anna, Łaszkiewicz, Agnieszka, Clissold, Rhian, Shaw-Smith, Charles, Munshi, Raj, Haws, Robert M., Izzi, Claudia, Capelli, Irene, Santostefano, Marisa, Graziano, Claudio, Scolari, Francesco, Sussman, Amy, Trachtman, Howard, Decramer, Stephane, Matignon, Marie, Grimbert, Philippe, Shoemaker, Lawrence R., Stavrou, Christoforos, Abdelwahed, Mayssa, Belghith, Neila, Sinclair, Matthew, Claes, Kathleen, Kopel, Tal, Moe, Sharon, Deltas, Constantinos, Knebelmann, Bertrand, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.

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Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations von Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C., Calado, Joaquim, Torres, Rosa J., Lhotta, Karl, Steubl, Dominik, Gale, Daniel P., Gast, Christine, Gombos, Eva, Ainsworth, Hannah C., Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.

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Uromodulin storage diseases: Clinical aspects and mechanisms von Scolari, Francesco, Caridi, Gianluca, Rampoldi, Luca, Tardanico, Regina, Izzi, Claudia, Pirulli, Doroti, Amoroso, Antonio, Casari, Giorgio, Ghiggeri, Gian Marco

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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy von Furlan, Francesca, Rovelli, Attilio, Rigoldi, Miriam, Filocamo, Mirella, Tappino, Barbara, Friday, Douglas, Gasperini, Serena, Mariani, Silvana, Izzi, Claudia, Bondioni, Maria Pia, Gellera, Cinzia, Venerando, Anna, Villa, Nicoletta, Del Carmen Rodriguez Perez, Maria, Pavan, Fabio, Biondi, Andrea, Parini, Rossella

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Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis von Micale, Lucia, Turturo, Maria Giuseppina, Fusco, Carmela, Augello, Bartolomeo, Jurado, Luis A Pérez, Izzi, Claudia, Digilio, Maria Cristina, Milani, Donatella, Lapi, Elisabetta, Zelante, Leopoldo, Merla, Giuseppe

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Uromodulin: from monogenic to multifactorial diseases von Scolari, Francesco, Izzi, Claudia, Ghiggeri, Gian Marco

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Urinary secretion and extracellular aggregation of mutant uromodulin isoforms von Schaeffer, Céline, Cattaneo, Angela, Trudu, Matteo, Santambrogio, Sara, Bernascone, Ilenia, Giachino, Daniela, Caridi, Gianluca, Campo, Andrea, Murtas, Corrado, Benoni, Simona, Izzi, Claudia, De Marchi, Mario, Amoroso, Antonio, Ghiggeri, Gian Marco, Scolari, Francesco, Bachi, Angela, Rampoldi, Luca

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Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 von Uliana, Vera, Marcocci, Elena, Mucciolo, Mafalda, Meloni, Ilaria, Izzi, Claudia, Manno, Carlo, Bruttini, Mirella, Mari, Francesca, Scolari, Francesco, Renieri, Alessandra, Salviati, Leonardo

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Dissecting Heterogeneity and Common Pathogenetic Pathways in Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in REN: FR-PO585 von Schaeffer, Celine, De Fusco, Maurizio, Pasqualetto, Elena, Scolari, Caterina, Izzi, Claudia, Scolari, Francesco, Rampoldi, Luca

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Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis von Malvestiti, Francesca, Agrati, Cristina, Grimi, Beatrice, Pompilii, Eva, Izzi, Claudia, Martinoni, Lorenza, Gaetani, Elisa, Liuti, Maria Rosaria, Trotta, Anna, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana

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Clinical Significance of the Cystic Phenotype in Alport Syndrome von Zeni, Letizia, Mescia, Federica, Toso, Diego, Dordoni, Chiara, Mazza, Cinzia, Savoldi, Gianfranco, Econimo, Laura, Cortinovis, Roberta, Fisogni, Simona, Alberici, Federico, Scolari, Francesco, Izzi, Claudia

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The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis von Xie, Jingyuan, Liu, Lili, Mladkova, Nikol, Li, Yifu, Hu, Xiaofan, Yu, Xialian, Xu, Jing, Caliskan, Yasar, Sidore, Carlo, Rosen, Raphael J., Bodria, Monica, Zanoni, Francesca, Zhang, Jun Y., Krithivasan, Priya, Mehl, Karla, Marasa, Maddalena, Khan, Atlas, Ozay, Fatih, Bomback, Andrew S., Appel, Gerald B., Sanna-Cherchi, Simone, Sampson, Matthew G., Mariani, Laura H., Perkowska-Ptasinska, Agnieszka, Durlik, Magdalena, Mucha, Krzysztof, Moszczuk, Barbara, Foroncewicz, Bartosz, Pączek, Leszek, Habura, Ireneusz, Ars, Elisabet, Ballarin, Jose, Mani, Laila-Yasmin, Vogt, Bruno, Ozturk, Savas, Yildiz, Abdülmecit, Seyahi, Nurhan, Arikan, Hakki, Koc, Mehmet, Basturk, Taner, Karahan, Gonca, Akgul, Sebahat Usta, Sever, Mehmet Sukru, Santoro, Domenico, Londrino, Francesco, Gesualdo, Loreto, Reiterova, Jana, Izzi, Claudia, Savoldi, Silvana, Spotti, Donatella, Marcantoni, Carmelita, Messa, Piergiorgio, Roccatello, Dario, Granata, Simona, Zaza, Gianluigi, Pisani, Isabella, Allegri, Landino, Sprangers, Ben, Park, Jin-Ho, Cho, BeLong, Kim, Yon Su, Kim, Dong Ki, Suzuki, Hitoshi, Amoroso, Antonio, Pani, Antonello, Hamilton, Patrick, Harris, Shelly, Gupta, Sanjana, Cheshire, Chris, Issler, Naomi, Pepper, Ruth J., Connolly, John, Powis, Stephen, Bockenhauer, Detlef, Stanescu, Horia C., Ashman, Neil, Loos, Ruth J. F., Kenny, Eimear E., Wuttke, Matthias, Eckardt, Kai-Uwe, Köttgen, Anna, Hofstra, Julia M., Coenen, Marieke J. H., Kiemeney, Lambertus A., Kretzler, Matthias, Beck, Lawrence H., Debiec, Hanna, Ronco, Pierre, Wetzels, Jack F. M., Zoledziewska, Magdalena, Cucca, Francesco, Ionita-Laza, Iuliana, Lee, Hajeong, Hoxha, Elion, Stahl, Rolf A. K., Zhao, Ming-hui, Gharavi, Ali G., Kleta, Robert, Chen, Nan, Kiryluk, Krzysztof

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