Sfoglia per Autore
The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia.
2014-01-01 Izzi, C; Dallera, Nadia; Manenti, C; Caridi, G; Ghiggeri, G; Rampoldi, L; Scolari, Francesco
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis.
2015-01-01 Gregorini, G; Izzi, C; Ravani, P; Obici, L; Dallera, Nadia; Del Barba, A; Negrinelli, A; Tardanico, R; Nardi, M; Biasi, L; Scalvini, T; Merlini, G; Scolari, Francesco
Uromodulin: from monogenic to multifactorial diseases.
2015-01-01 Scolari, Francesco; Izzi, C; Ghiggeri, G. M.
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis
2015-01-01 Malvestiti, F; Agrati, C; Grimi, B; Pompilii, E; Izzi, C; Martinoni, L; Gaetani, E; Liuti, Mr; Trotta, A; Maggi, F; Simoni, G; Grati, Fr.
[ADPKD: predictors of Renal Disease progression]
2016-01-01 Scolari, Francesco; Dallera, Nadia; Saletti, Arianna; Terlizzi, Vincenzo; Izzi, Claudia
[Molecular diagnosis of ADPKD]
2016-01-01 Scolari, Francesco; Savoldi, Gianfranco; Mazza, Cinzia; Izzi, Claudia
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
2016-01-01 Carrera, Paola; Calzavara, Silvia; Magistroni, Riccardo; Den Dunnen, Johan T.; Rigo, Francesca; Stenirri, Stefania; Testa, Francesca; Messa, Piergiorgio; Cerutti, Roberta; Scolari, Francesco; Izzi, Claudia; Edefonti, Alberto; Negrisolo, Susanna; Benetti, Elisa; Alibrandi, Maria Teresa Sciarrone; Manunta, Paolo; Boletta, Alessandra; Ferrari, Maurizio
[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease]
2016-01-01 Magistroni, R; Izzi, C; Scolari, F.
[Genetics and genetic counseling]
2016-01-01 Izzi, C; Liut, F; Dallera, N; Mazza, C; Magistroni, R; Savoldi, G; Scolari, F.
Genetic drivers of kidney defects in the digeorge syndrome
2017-01-01 Lopez Rivera, E.; Liu, Y. P.; Verbitsky, M.; Anderson, B. R.; Capone, V. P.; Otto, E. A.; Yan, Z.; Mitrotti, A.; Martino, J.; Steers, N. J.; Fasel, D. A.; Vukojevic, K.; Deng, R.; Racedo, S. E.; Liu, Q.; Werth, M.; Westland, R.; Vivante, A.; Makar, G. S.; Bodria, M.; Sampson, M. G.; Gillies, C. E.; Vega Warner, V.; Maiorana, M.; Petrey, D. S.; Honig, B.; Lozanovski, V. J.; Salomon, R.; Heidet, L.; Carpentier, W.; Gaillard, D.; Carrea, A.; Gesualdo, L.; Cusi, D.; Izzi, Claudia; Scolari, Francesco; Van Wijk, J. A. E.; Arapovic, A.; Saraga Babic, M.; Saraga, M.; Kunac, N.; Samii, A.; McDonald McGinn, D. M.; Crowley, T. B.; Zackai, E. H.; Drozdz, D.; Miklaszewska, M.; Tkaczyk, M.; Sikora, P.; Szczepanska, M.; Mizerska Wasiak, M.; Krzemien, G.; Szmigielska, A.; Zaniew, M.; Darlow, J. M.; Puri, P.; Barton, D.; Casolari, E.; Furth, S. L.; Warady, B. A.; Gucev, Z.; Hakonarson, H.; Flogelova, H.; Tasic, V.; Latos Bielenska, A.; Materna Kiryluk, A.; Allegri, L.; Wong, C. S.; Drummond, I. A.; D'Agati, V.; Imamoto, A.; Barasch, J. M.; Hildebrandt, F.; Kiryluk, K.; Lifton, R. P.; Morrow, B. E.; Jeanpierre, C.; Papaioannou, V. E.; Ghiggeri, G. M.; Gharavi, A. G.; Katsanis, N.; Sanna Cherchi, S.
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.
2017-01-01 Bondioni, Mp; Pazzaglia, U; Izzi, C; Di Gaetano, G; Laffranchi, F; Baldi, M; Prefumo, F.
Chromosomal Microarray and Fetal Growth Restriction
2017-01-01 Prefumo, Federico; Fichera, Anna; Fratelli, Nicola; Izzi, Claudia
ADPKD and Heart
2017-01-01 Liut, Francesca; Izzi, Claudia; Dallera, Nadia; Scolari, Francesco
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
2017-01-01 Sanna-Cherchi, Simone; Khan, Kamal; Westland, Rik; Krithivasan, Priya; Fievet, Lorraine; Rasouly, Hila Milo; Ionita-Laza, Iuliana; Capone, Valentina P.; Fasel, David A.; Kiryluk, Krzysztof; Kamalakaran, Sitharthan; Bodria, Monica; Otto, Edgar A.; Sampson, Matthew G.; Gillies, Christopher E.; Vega-Warner, Virginia; Vukojevic, Katarina; Pediaditakis, Igor; Makar, Gabriel S.; Mitrotti, Adele; Verbitsky, Miguel; Martino, Jeremiah; Liu, Qingxue; Na, Young-Ji; Goj, Vinicio; Ardissino, Gianluigi; Gigante, Maddalena; Gesualdo, Loreto; Janezcko, Magdalena; Zaniew, Marcin; Mendelsohn, Cathy Lee; Shril, Shirlee; Hildebrandt, Friedhelm; van Wijk, Joanna A E; Arapovic, Adela; Saraga, Marijan; Allegri, Landino; Izzi, Claudia; Scolari, Francesco; Tasic, Velibor; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Kiryluk, Anna-Materna; Mane, Shrikant; Goldstein, David B.; Lifton, Richard P.; Katsanis, Nicholas; Davis, Erica E.; Gharavi, Ali G.
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy
2018-01-01 Francesca, Furlan; Attilio, Rovelli; Miriam, Rigoldi; Mirella, Filocamo; Barbara, Tappino; Douglas, Friday; Gasperini, Serena; Silvana, Mariani; Izzi, Claudia; Bondioni, Maria Pia; Gellera, Cinzia; Anna, Venerando; Nicoletta, Villa; Maria del Carmen Rodriguez Perez, ; Fabio, Pavan; Andrea Biondi Rossella Parini,
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature
2018-01-01 Agostini, A; Marchetti, D; Izzi, C; Cocco, I; Pinelli, L; Accorsi, P; Iascone Maria, R; Giordano, L
Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations.
2019-01-01 Chinni, E; Tiscia, G; Favuzzi, G; Cappucci, F; Malcangi, G; Bagna, R; Izzi, C; Rizzi, D; De Stefano, V; Grandone, E.
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
2019-01-01 Mackay, Djg; Bliek, J; Lombardi, Mp; Russo, S; Calzari, L; Guzzetti, S; Izzi, C; Selicorni, A; Melis, D; Temple, K; Maher, E; Brioude, F; Netchine, I; Eggermann, T
Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence
2019-01-01 Prefumo, Federico; Petrilli, Giulia; Palumbo, Giovanni; Sartori, Enrico; Izzi, Claudia; Pinelli, Lorenzo
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review
2019-01-01 Dordoni, C.; Prefumo, F.; Iascone, M.; Pinelli, L.; Palumbo, G.; Bondioni, M. P.; Savoldi, G.; Donzelli, C.; Sartori, E.; Valente, E. M.; Izzi, C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia. | 1-gen-2014 | Izzi, C; Dallera, Nadia; Manenti, C; Caridi, G; Ghiggeri, G; Rampoldi, L; Scolari, Francesco | |
| Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. | 1-gen-2015 | Gregorini, G; Izzi, C; Ravani, P; Obici, L; Dallera, Nadia; Del Barba, A; Negrinelli, A; Tardanico, R; Nardi, M; Biasi, L; Scalvini, T; Merlini, G; Scolari, Francesco | |
| Uromodulin: from monogenic to multifactorial diseases. | 1-gen-2015 | Scolari, Francesco; Izzi, C; Ghiggeri, G. M. | |
| Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis | 1-gen-2015 | Malvestiti, F; Agrati, C; Grimi, B; Pompilii, E; Izzi, C; Martinoni, L; Gaetani, E; Liuti, Mr; Trotta, A; Maggi, F; Simoni, G; Grati, Fr. | |
| [ADPKD: predictors of Renal Disease progression] | 1-gen-2016 | Scolari, Francesco; Dallera, Nadia; Saletti, Arianna; Terlizzi, Vincenzo; Izzi, Claudia | |
| [Molecular diagnosis of ADPKD] | 1-gen-2016 | Scolari, Francesco; Savoldi, Gianfranco; Mazza, Cinzia; Izzi, Claudia | |
| Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) | 1-gen-2016 | Carrera, Paola; Calzavara, Silvia; Magistroni, Riccardo; Den Dunnen, Johan T.; Rigo, Francesca; Stenirri, Stefania; Testa, Francesca; Messa, Piergiorgio; Cerutti, Roberta; Scolari, Francesco; Izzi, Claudia; Edefonti, Alberto; Negrisolo, Susanna; Benetti, Elisa; Alibrandi, Maria Teresa Sciarrone; Manunta, Paolo; Boletta, Alessandra; Ferrari, Maurizio | |
| [Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease] | 1-gen-2016 | Magistroni, R; Izzi, C; Scolari, F. | |
| [Genetics and genetic counseling] | 1-gen-2016 | Izzi, C; Liut, F; Dallera, N; Mazza, C; Magistroni, R; Savoldi, G; Scolari, F. | |
| Genetic drivers of kidney defects in the digeorge syndrome | 1-gen-2017 | Lopez Rivera, E.; Liu, Y. P.; Verbitsky, M.; Anderson, B. R.; Capone, V. P.; Otto, E. A.; Yan, Z.; Mitrotti, A.; Martino, J.; Steers, N. J.; Fasel, D. A.; Vukojevic, K.; Deng, R.; Racedo, S. E.; Liu, Q.; Werth, M.; Westland, R.; Vivante, A.; Makar, G. S.; Bodria, M.; Sampson, M. G.; Gillies, C. E.; Vega Warner, V.; Maiorana, M.; Petrey, D. S.; Honig, B.; Lozanovski, V. J.; Salomon, R.; Heidet, L.; Carpentier, W.; Gaillard, D.; Carrea, A.; Gesualdo, L.; Cusi, D.; Izzi, Claudia; Scolari, Francesco; Van Wijk, J. A. E.; Arapovic, A.; Saraga Babic, M.; Saraga, M.; Kunac, N.; Samii, A.; McDonald McGinn, D. M.; Crowley, T. B.; Zackai, E. H.; Drozdz, D.; Miklaszewska, M.; Tkaczyk, M.; Sikora, P.; Szczepanska, M.; Mizerska Wasiak, M.; Krzemien, G.; Szmigielska, A.; Zaniew, M.; Darlow, J. M.; Puri, P.; Barton, D.; Casolari, E.; Furth, S. L.; Warady, B. A.; Gucev, Z.; Hakonarson, H.; Flogelova, H.; Tasic, V.; Latos Bielenska, A.; Materna Kiryluk, A.; Allegri, L.; Wong, C. S.; Drummond, I. A.; D'Agati, V.; Imamoto, A.; Barasch, J. M.; Hildebrandt, F.; Kiryluk, K.; Lifton, R. P.; Morrow, B. E.; Jeanpierre, C.; Papaioannou, V. E.; Ghiggeri, G. M.; Gharavi, A. G.; Katsanis, N.; Sanna Cherchi, S. | |
| Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. | 1-gen-2017 | Bondioni, Mp; Pazzaglia, U; Izzi, C; Di Gaetano, G; Laffranchi, F; Baldi, M; Prefumo, F. | |
| Chromosomal Microarray and Fetal Growth Restriction | 1-gen-2017 | Prefumo, Federico; Fichera, Anna; Fratelli, Nicola; Izzi, Claudia | |
| ADPKD and Heart | 1-gen-2017 | Liut, Francesca; Izzi, Claudia; Dallera, Nadia; Scolari, Francesco | |
| Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations | 1-gen-2017 | Sanna-Cherchi, Simone; Khan, Kamal; Westland, Rik; Krithivasan, Priya; Fievet, Lorraine; Rasouly, Hila Milo; Ionita-Laza, Iuliana; Capone, Valentina P.; Fasel, David A.; Kiryluk, Krzysztof; Kamalakaran, Sitharthan; Bodria, Monica; Otto, Edgar A.; Sampson, Matthew G.; Gillies, Christopher E.; Vega-Warner, Virginia; Vukojevic, Katarina; Pediaditakis, Igor; Makar, Gabriel S.; Mitrotti, Adele; Verbitsky, Miguel; Martino, Jeremiah; Liu, Qingxue; Na, Young-Ji; Goj, Vinicio; Ardissino, Gianluigi; Gigante, Maddalena; Gesualdo, Loreto; Janezcko, Magdalena; Zaniew, Marcin; Mendelsohn, Cathy Lee; Shril, Shirlee; Hildebrandt, Friedhelm; van Wijk, Joanna A E; Arapovic, Adela; Saraga, Marijan; Allegri, Landino; Izzi, Claudia; Scolari, Francesco; Tasic, Velibor; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Kiryluk, Anna-Materna; Mane, Shrikant; Goldstein, David B.; Lifton, Richard P.; Katsanis, Nicholas; Davis, Erica E.; Gharavi, Ali G. | |
| A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy | 1-gen-2018 | Francesca, Furlan; Attilio, Rovelli; Miriam, Rigoldi; Mirella, Filocamo; Barbara, Tappino; Douglas, Friday; Gasperini, Serena; Silvana, Mariani; Izzi, Claudia; Bondioni, Maria Pia; Gellera, Cinzia; Anna, Venerando; Nicoletta, Villa; Maria del Carmen Rodriguez Perez, ; Fabio, Pavan; Andrea Biondi Rossella Parini, | |
| Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature | 1-gen-2018 | Agostini, A; Marchetti, D; Izzi, C; Cocco, I; Pinelli, L; Accorsi, P; Iascone Maria, R; Giordano, L | |
| Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations. | 1-gen-2019 | Chinni, E; Tiscia, G; Favuzzi, G; Cappucci, F; Malcangi, G; Bagna, R; Izzi, C; Rizzi, D; De Stefano, V; Grandone, E. | |
| Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes | 1-gen-2019 | Mackay, Djg; Bliek, J; Lombardi, Mp; Russo, S; Calzari, L; Guzzetti, S; Izzi, C; Selicorni, A; Melis, D; Temple, K; Maher, E; Brioude, F; Netchine, I; Eggermann, T | |
| Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence | 1-gen-2019 | Prefumo, Federico; Petrilli, Giulia; Palumbo, Giovanni; Sartori, Enrico; Izzi, Claudia; Pinelli, Lorenzo | |
| Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review | 1-gen-2019 | Dordoni, C.; Prefumo, F.; Iascone, M.; Pinelli, L.; Palumbo, G.; Bondioni, M. P.; Savoldi, G.; Donzelli, C.; Sartori, E.; Valente, E. M.; Izzi, C. |
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