Sfoglia per Autore
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.
2009-01-01 Weng, Pl; Sanna Cherchi, S; Hensle, T; Shapiro, E; Werzberger, A; Caridi, G; Izzi, C; Konka, A; Reese, Ac; Cheng, R; Werzberger, S; Schlussel, Rn; Burk, Rd; Lee, Jh; Ravazzolo, R; Scolari, Francesco; Ghiggeri, Gm; Glassberg, K; Gharavi, A. G.
Renal outcome in patients with congenital anomalies of the kidney and urinary tract.
2009-01-01 Sanna Cherchi, S; Ravani, P; Corbani, V; Parodi, S; Haupt, R; Piaggio, G; Innocenti, Ml; Somenzi, D; Trivelli, A; Caridi, G; Izzi, C; Scolari, Francesco; Mattioli, G; Allegri, L; Ghiggeri, G. M.
Type I hyperprolinemia: genotype/phenotype correlations
2010-01-01 Guilmatre, A; Legallic, S; Steel, G; Willis, A; Di Rosa, G; Goldenberg, A; Drouin-Garraud, V; Guet, A; Mignot, C; Des Portes, V; Valayannopoulos, V; Van Maldergem, L; Hoffman, Jd; Izzi, C; Espil-Taris, C; Orcesi, S; Bonafé, L; Le Galloudec, E; Maurey, H; Ioos, C; Afenjar, A; Blanchet, P; Echenne, B; Roubertie, A; Frebourg, T; Valle, D; Campion, D
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis
2010-01-01 Micale, L; Turturo, Mg; Fusco, C; Augello, B; Jurado, La; Izzi, C; Digilio, Mc; Milani, D; Lapi, E; Zelante, L; Merla, G.
IgA nephropathy--the case for a genetic basis becomes stronger.
2010-01-01 Kiryluk, K; Gharavi, Ag; Izzi, C; Scolari, Francesco
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.
2010-01-01 Gentilin, B; Forzano, F; Bedeschi, Mf; Rizzuti, T; Faravelli, F; Izzi, C; Lituania, M; Rodriguez Perez, C; Bondioni, Maria Pia; Savoldi, G; Grosso, E; Botta, G; Viora, E; Baffico, Am; Lalatta, F.
Genome-wide association study identifies susceptibility loci for IgA nephropathy
2011-01-01 Gharavi, Ag; Kiryluk, K; Choi, M; Li, Y; Hou, P; Xie, J; Sanna Cherchi, S; Men, Cj; Julian, Ba; Wyatt, Rj; Novak, J; He, Jc; Wang, H; Lv, J; Zhu, L; Wang, W; Wang, Z; Yasuno, K; Gunel, M; Mane, S; Umlauf, S; Tikhonova, I; Beerman, I; Savoldi, S; Magistroni, R; Ghiggeri, Gm; Bodria, M; Lugani, F; Ravani, P; Ponticelli, C; Allegri, L; Boscutti, G; Frasca, G; Amore, A; Peruzzi, L; Coppo, R; Izzi, C; Viola, Bf; Prati, E; Salvadori, M; Mignani, R; Gesualdo, L; Bertinetto, F; Mesiano, P; Amoroso, A; Scolari, Francesco; Chen, N; Zhang, H; Lifton, R. P.
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2
2011-01-01 Uliana, V; Marcocci, E; Mucciolo, M; Meloni, I; Izzi, C; Manno, C; Bruttini, M; Mari, F; Scolari, Francesco; Renieri, A; Salviati, L.
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.
2011-01-01 Izzi, C; Maffei, P; Milan, G; Tardanico, R; Foini, P; Marshall, J; Marega, A; Scolari, Francesco
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis
2012-01-01 K., Kiryluk; Y., Li; S., Sanna Cherchi; M., Rohanizadegan; H., Suzuki; F., Eitner; H., Snyder; M., Choi; Ping, Hou6; Scolari, Francesco; C., Izzi; M., Gigante; L., Gesualdo; S., Savoldi; A., Amoroso; D., Cusi; P., Zamboli; B., Julian; J., Novak; R., Wyatt; K., Mucha; M., Perola; K., Kristiansson; A., Viktorin; P., Magnusson; G., Thorleifsson; U., Thorsteinsdottir; K., Stefansson; A., Boland; M., Metzger; L., Thibaudin; C., Wanner; K., Jager; S., Goto; D., Maixnerova; H., Karnib; J., Nagy; Ulf, Panzer; J., Xie; N., Chen; V., Tesar; I., Narita; F., Berthoux; J., Floege; B., Stengel; H., Zhang; R., Lifton; A., Gharavi
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms
2012-01-01 Schaeffer, C; Cattaneo, A; Trudu, M; Santambrogio, S; Bernascone, I; Giachino, D; Caridi, G; Campo, A; Murtas, C; Benoni, S; Izzi, C; De Marchi, M; Amoroso, A; Ghiggeri, Gm; Scolari, Francesco; Bachi, A; Rampoldi, L.
Copy number disorders are a Common Cause of Congenital Kidney Malformations
2012-01-01 Simone Sanna Cherchi, ; Kiryluk, Krzysztof; Burgess, Katelyn E.; Bodria, Monica; Sampson, Matthew G.; Hadley, Dexter; Nees, Shannon N.; Sterken, Roel; Verbitsky, Miguel; Lozanovski, Vladimir J.; Anna Materna Kiryluk, ; Barlassina, Cristina; Corbani, Valentina; Carrea, Alba; Perry, Brittany J.; Somenzi, Danio; Murtas, Corrado; Nadica Ristoska Bojkovska, ; Izzi, Claudia; Bianco, Beatrice; Zaniew, Marcin; Flogelova, Hana; Weng, Patricia L.; Kacak, Nilgun; Giberti, Stefania; Gigante, Maddalena; Arapovic, Adela; Drnasin, Kristina; Caridi, Gianluca; Curioni, Simona; Ammenti, Anita; Ferretti, Stefania; Goj, Vinicio; Jobanputra, Vaidehi; Chung, Wendy; Lifton, Richard P.; Clark, Lorraine N.; Saraga, Marijan; Padmanabhan, Sandosh; Dominiczak, Anna F.; Gesualdo, Loreto; Gucev, Zoran; Allegri, Landino; Anna Latos Bielenska, ; Cusi, Daniele; Scolari, Francesco; Tasics, Velibor; Hakonarson, Hakon; Gian Marco Ghiggeri, ; Gharavi, Ali G.
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations
2013-01-01 Migliore, C; Athanasakis, E; Dahoun, S; Wonkam, A; Lees, M; Calabrese, O; Connell, F; Lynch, Sa; Izzi, C; Pompilii, E; Thakur, S; van Maarle, M; Wilson, Lc; Meroni, G.
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
2013-01-01 Handley, Mt; Morris-Rosendahl, Dj; Brown, S; Macdonald, F; Hardy, C; Bem, D; Carpanini, Sm; Borck, G; Martorell, L; Izzi, C; Faravelli, F; Accorsi, P; Pinelli, L; Basel-Vanagaite, L; Peretz, G; Abdel-Salam, Gm; Zaki, Ms; Jansen, A; Mowat, D; Glass, I; Stewart, H; Mancini, G; Lederer, D; Roscioli, T; Giuliano, F; Plomp, As; Rolfs, A; Graham, Jm; Seemanova, E; Poo, P; García-Cazorla, A; Edery, P; Jackson, Ij; Maher, Er; Aligianis, Ia.
Abdominal wall defects
2013-01-01 Prefumo, F; Izzi, C
Mutations in DSTYK and dominant urinary tract malformations.
2013-01-01 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; Kosuljandic Vukic, D; Vukojevic, K; Saraga Babic, M; Saraga, M; Gucev, Z; Allegri, L; Latos Bielenska, A; Casu, D; State, M; Scolari, Francesco; Ravazzolo, R; Kiryluk, K; Al Awqati, Q; D'Agati, Vd; Drummond, Ia; Tasic, V; Lifton, Rp; Ghiggeri, Gm; Gharavi, A. G.
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
2013-01-01 Savoldi, G; Izzi, C; Signorelli, M; Bondioni, Maria Pia; Romani, C; Lanzi, G; Moratto, D; Verdoni, L; Pinotti, M; Prefumo, F; Superti Furga, A; Pilotta, A.
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
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis
2014-01-01 Pazzaglia, Ugo; Donzelli, Carla M.; Baldi, Maurizia; Giuseppe Di Gaetano, ; Bondioni, Maria Pia; Izzi, Claudia; Izzi, Claudia
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens
2014-01-01 Kiryluk, K; Li, Y; Scolari, Francesco; Sanna Cherchi, S; Choi, M; Verbitsky, M; Fasel, D; Lata, S; Prakash, S; Shapiro, S; Fischman, C; Snyder, Hj; Appel, G; Izzi, C; Viola, Bf; Dallera, N; Del Vecchio, L; Barlassina, C; Salvi, E; Bertinetto, Fe; Amoroso, A; Savoldi, S; Rocchietti, M; Amore, A; Peruzzi, L; Coppo, R; Salvadori, M; Ravani, P; Magistroni, R; Ghiggeri, Gm; Caridi, G; Bodria, M; Lugani, F; Allegri, L; Delsante, M; Maiorana, M; Magnano, A; Frasca, G; Boer, E; Boscutti, G; Ponticelli, C; Mignani, R; Marcantoni, C; Di Landro, D; Santoro, D; Pani, A; Polci, R; Feriozzi, S; Chicca, S; Galliani, M; Gigante, M; Gesualdo, L; Zamboli, P; Battaglia, Gg; Garozzo, M; Maixnerová, D; Tesar, V; Eitner, F; Rauen, T; Floege, J; Kovacs, T; Nagy, J; Mucha, K; Pączek, L; Zaniew, M; Mizerska Wasiak, M; Roszkowska Blaim, M; Pawlaczyk, K; Gale, D; Barratt, J; Thibaudin, L; Berthoux, F; Canaud, G; Boland, A; Metzger, M; Panzer, U; Suzuki, H; Goto, S; Narita, I; Caliskan, Y; Xie, J; Hou, P; Chen, N; Zhang, H; Wyatt, Rj; Novak, J; Julian, Ba; Feehally, J; Stengel, B; Cusi, D; Lifton, Rp; Gharavi, Ag
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. | 1-gen-2009 | Weng, Pl; Sanna Cherchi, S; Hensle, T; Shapiro, E; Werzberger, A; Caridi, G; Izzi, C; Konka, A; Reese, Ac; Cheng, R; Werzberger, S; Schlussel, Rn; Burk, Rd; Lee, Jh; Ravazzolo, R; Scolari, Francesco; Ghiggeri, Gm; Glassberg, K; Gharavi, A. G. | |
| Renal outcome in patients with congenital anomalies of the kidney and urinary tract. | 1-gen-2009 | Sanna Cherchi, S; Ravani, P; Corbani, V; Parodi, S; Haupt, R; Piaggio, G; Innocenti, Ml; Somenzi, D; Trivelli, A; Caridi, G; Izzi, C; Scolari, Francesco; Mattioli, G; Allegri, L; Ghiggeri, G. M. | |
| Type I hyperprolinemia: genotype/phenotype correlations | 1-gen-2010 | Guilmatre, A; Legallic, S; Steel, G; Willis, A; Di Rosa, G; Goldenberg, A; Drouin-Garraud, V; Guet, A; Mignot, C; Des Portes, V; Valayannopoulos, V; Van Maldergem, L; Hoffman, Jd; Izzi, C; Espil-Taris, C; Orcesi, S; Bonafé, L; Le Galloudec, E; Maurey, H; Ioos, C; Afenjar, A; Blanchet, P; Echenne, B; Roubertie, A; Frebourg, T; Valle, D; Campion, D | |
| Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis | 1-gen-2010 | Micale, L; Turturo, Mg; Fusco, C; Augello, B; Jurado, La; Izzi, C; Digilio, Mc; Milani, D; Lapi, E; Zelante, L; Merla, G. | |
| IgA nephropathy--the case for a genetic basis becomes stronger. | 1-gen-2010 | Kiryluk, K; Gharavi, Ag; Izzi, C; Scolari, Francesco | |
| Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. | 1-gen-2010 | Gentilin, B; Forzano, F; Bedeschi, Mf; Rizzuti, T; Faravelli, F; Izzi, C; Lituania, M; Rodriguez Perez, C; Bondioni, Maria Pia; Savoldi, G; Grosso, E; Botta, G; Viora, E; Baffico, Am; Lalatta, F. | |
| Genome-wide association study identifies susceptibility loci for IgA nephropathy | 1-gen-2011 | Gharavi, Ag; Kiryluk, K; Choi, M; Li, Y; Hou, P; Xie, J; Sanna Cherchi, S; Men, Cj; Julian, Ba; Wyatt, Rj; Novak, J; He, Jc; Wang, H; Lv, J; Zhu, L; Wang, W; Wang, Z; Yasuno, K; Gunel, M; Mane, S; Umlauf, S; Tikhonova, I; Beerman, I; Savoldi, S; Magistroni, R; Ghiggeri, Gm; Bodria, M; Lugani, F; Ravani, P; Ponticelli, C; Allegri, L; Boscutti, G; Frasca, G; Amore, A; Peruzzi, L; Coppo, R; Izzi, C; Viola, Bf; Prati, E; Salvadori, M; Mignani, R; Gesualdo, L; Bertinetto, F; Mesiano, P; Amoroso, A; Scolari, Francesco; Chen, N; Zhang, H; Lifton, R. P. | |
| Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 | 1-gen-2011 | Uliana, V; Marcocci, E; Mucciolo, M; Meloni, I; Izzi, C; Manno, C; Bruttini, M; Mari, F; Scolari, Francesco; Renieri, A; Salviati, L. | |
| The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. | 1-gen-2011 | Izzi, C; Maffei, P; Milan, G; Tardanico, R; Foini, P; Marshall, J; Marega, A; Scolari, Francesco | |
| Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis | 1-gen-2012 | K., Kiryluk; Y., Li; S., Sanna Cherchi; M., Rohanizadegan; H., Suzuki; F., Eitner; H., Snyder; M., Choi; Ping, Hou6; Scolari, Francesco; C., Izzi; M., Gigante; L., Gesualdo; S., Savoldi; A., Amoroso; D., Cusi; P., Zamboli; B., Julian; J., Novak; R., Wyatt; K., Mucha; M., Perola; K., Kristiansson; A., Viktorin; P., Magnusson; G., Thorleifsson; U., Thorsteinsdottir; K., Stefansson; A., Boland; M., Metzger; L., Thibaudin; C., Wanner; K., Jager; S., Goto; D., Maixnerova; H., Karnib; J., Nagy; Ulf, Panzer; J., Xie; N., Chen; V., Tesar; I., Narita; F., Berthoux; J., Floege; B., Stengel; H., Zhang; R., Lifton; A., Gharavi | |
| Urinary secretion and extracellular aggregation of mutant uromodulin isoforms | 1-gen-2012 | Schaeffer, C; Cattaneo, A; Trudu, M; Santambrogio, S; Bernascone, I; Giachino, D; Caridi, G; Campo, A; Murtas, C; Benoni, S; Izzi, C; De Marchi, M; Amoroso, A; Ghiggeri, Gm; Scolari, Francesco; Bachi, A; Rampoldi, L. | |
| Copy number disorders are a Common Cause of Congenital Kidney Malformations | 1-gen-2012 | Simone Sanna Cherchi, ; Kiryluk, Krzysztof; Burgess, Katelyn E.; Bodria, Monica; Sampson, Matthew G.; Hadley, Dexter; Nees, Shannon N.; Sterken, Roel; Verbitsky, Miguel; Lozanovski, Vladimir J.; Anna Materna Kiryluk, ; Barlassina, Cristina; Corbani, Valentina; Carrea, Alba; Perry, Brittany J.; Somenzi, Danio; Murtas, Corrado; Nadica Ristoska Bojkovska, ; Izzi, Claudia; Bianco, Beatrice; Zaniew, Marcin; Flogelova, Hana; Weng, Patricia L.; Kacak, Nilgun; Giberti, Stefania; Gigante, Maddalena; Arapovic, Adela; Drnasin, Kristina; Caridi, Gianluca; Curioni, Simona; Ammenti, Anita; Ferretti, Stefania; Goj, Vinicio; Jobanputra, Vaidehi; Chung, Wendy; Lifton, Richard P.; Clark, Lorraine N.; Saraga, Marijan; Padmanabhan, Sandosh; Dominiczak, Anna F.; Gesualdo, Loreto; Gucev, Zoran; Allegri, Landino; Anna Latos Bielenska, ; Cusi, Daniele; Scolari, Francesco; Tasics, Velibor; Hakonarson, Hakon; Gian Marco Ghiggeri, ; Gharavi, Ali G. | |
| Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations | 1-gen-2013 | Migliore, C; Athanasakis, E; Dahoun, S; Wonkam, A; Lees, M; Calabrese, O; Connell, F; Lynch, Sa; Izzi, C; Pompilii, E; Thakur, S; van Maarle, M; Wilson, Lc; Meroni, G. | |
| Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome | 1-gen-2013 | Handley, Mt; Morris-Rosendahl, Dj; Brown, S; Macdonald, F; Hardy, C; Bem, D; Carpanini, Sm; Borck, G; Martorell, L; Izzi, C; Faravelli, F; Accorsi, P; Pinelli, L; Basel-Vanagaite, L; Peretz, G; Abdel-Salam, Gm; Zaki, Ms; Jansen, A; Mowat, D; Glass, I; Stewart, H; Mancini, G; Lederer, D; Roscioli, T; Giuliano, F; Plomp, As; Rolfs, A; Graham, Jm; Seemanova, E; Poo, P; García-Cazorla, A; Edery, P; Jackson, Ij; Maher, Er; Aligianis, Ia. | |
| Abdominal wall defects | 1-gen-2013 | Prefumo, F; Izzi, C | |
| Mutations in DSTYK and dominant urinary tract malformations. | 1-gen-2013 | 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; Kosuljandic Vukic, D; Vukojevic, K; Saraga Babic, M; Saraga, M; Gucev, Z; Allegri, L; Latos Bielenska, A; Casu, D; State, M; Scolari, Francesco; Ravazzolo, R; Kiryluk, K; Al Awqati, Q; D'Agati, Vd; Drummond, Ia; Tasic, V; Lifton, Rp; Ghiggeri, Gm; Gharavi, A. G. | |
| Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. | 1-gen-2013 | Savoldi, G; Izzi, C; Signorelli, M; Bondioni, Maria Pia; Romani, C; Lanzi, G; Moratto, D; Verdoni, L; Pinotti, M; Prefumo, F; Superti Furga, A; Pilotta, A. | |
| 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 | |
| Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis | 1-gen-2014 | Pazzaglia, Ugo; Donzelli, Carla M.; Baldi, Maurizia; Giuseppe Di Gaetano, ; Bondioni, Maria Pia; Izzi, Claudia; Izzi, Claudia | |
| Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens | 1-gen-2014 | Kiryluk, K; Li, Y; Scolari, Francesco; Sanna Cherchi, S; Choi, M; Verbitsky, M; Fasel, D; Lata, S; Prakash, S; Shapiro, S; Fischman, C; Snyder, Hj; Appel, G; Izzi, C; Viola, Bf; Dallera, N; Del Vecchio, L; Barlassina, C; Salvi, E; Bertinetto, Fe; Amoroso, A; Savoldi, S; Rocchietti, M; Amore, A; Peruzzi, L; Coppo, R; Salvadori, M; Ravani, P; Magistroni, R; Ghiggeri, Gm; Caridi, G; Bodria, M; Lugani, F; Allegri, L; Delsante, M; Maiorana, M; Magnano, A; Frasca, G; Boer, E; Boscutti, G; Ponticelli, C; Mignani, R; Marcantoni, C; Di Landro, D; Santoro, D; Pani, A; Polci, R; Feriozzi, S; Chicca, S; Galliani, M; Gigante, M; Gesualdo, L; Zamboli, P; Battaglia, Gg; Garozzo, M; Maixnerová, D; Tesar, V; Eitner, F; Rauen, T; Floege, J; Kovacs, T; Nagy, J; Mucha, K; Pączek, L; Zaniew, M; Mizerska Wasiak, M; Roszkowska Blaim, M; Pawlaczyk, K; Gale, D; Barratt, J; Thibaudin, L; Berthoux, F; Canaud, G; Boland, A; Metzger, M; Panzer, U; Suzuki, H; Goto, S; Narita, I; Caliskan, Y; Xie, J; Hou, P; Chen, N; Zhang, H; Wyatt, Rj; Novak, J; Julian, Ba; Feehally, J; Stengel, B; Cusi, D; Lifton, Rp; Gharavi, Ag |
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