Sfoglia per Autore
Nonsyndromic pulmonary valve stenosis and the PTPN11 gene
2003 Anna, Sarkozy; Emanuela, Conti; MARINO TAUSSIG DE BODONIA, Bruno; Maria Cristina, Digilio; Vincenzo, Paoletti; Rita, Mingarelli; Giorgia, Esposito; Pizzuti, Antonio; Bruno, Dallapiccola
. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.
2003 Brancati, F; Valente, Em; Davies, Np; Sarkozy, A; Sweeney, Mg; Lomonaco, M; Pizzuti, Antonio; Hanna, Mg; Dallapiccola, B.
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.
2003 Pizzuti, Antonio; Elisabetta, Flex; CARLO DI BONAVENTURA, ; Tania, Dottorini; Gabriella, Egeo; Mario, Manfredi; Bruno, Dallapiccola; Giallonardo, Anna Teresa
Mutations of FOG-2 gene in sporadic cases of Tetralogy of Fallot
2003 Pizzuti, Antonio; Sarkozy, A; Newton, Al; Conti, E; Flex, E; Digilio, Mc; Amati, F; Gianni, D; Tandoi, C; Marino Taussig De Bodonia, Bruno; Crossley, M; Dalla Piccola, Bruno
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene
2003 Conti, E; Grifone, N; Sarkozy, A; Tandoi, C; Marino Taussig De Bodonia, Bruno; Digilio, Mc; Mingarelli, R; Pizzuti, Antonio; Dalla Piccola, Bruno
Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12
2003 Flex, E; Mangino, M; Mazzili, M; Martini, A; Migliosi, V; Colosimo, A; Mingarelli, R; Pizzuti, Antonio; Dallapiccola, B.
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
2003 Defazio, G.; Brancati, F.; Valente, E. M.; Caputo, Viviana; Pizzuti, Antonio; Martino, D.; Abbruzzese, G.; Livrea, P.; Berardelli, Alfredo; DALLA PICCOLA, Bruno
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: A case-control study
2004 Emilio Di, Maria; Rossella, Gulli; Silvia, Begni; Alessandro De, Luca; Stefano, Bignotti; Augusto, Pasini; Emilia, Bellone; Pizzuti, Antonio; Bruno, Dallapiccola; Giuseppe, Novelli; Franco, Ajmar; Massimo, Gennarelli; Paola, Mandich
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations
2004 M., Cristina Digilio; Giuseppe, Pacileo; Anna, Sarkozy; Giuseppe, Limongelli; Emanuela, Conti; Fabiana, Cerrato; MARINO TAUSSIG DE BODONIA, Bruno; Pizzuti, Antonio; R., Calabro'; Bruno, Dallapiccola
Mutations in the Nogo-66 receptor (RTN4R) gene in schizophrenia
2004 L., Sinibaldi; DE LUCA, A; Bellacchio, E; Conti, E; Pasini, A; Paloscia, C; Spalletta, G; Caltagirone, C; Pizzuti, Antonio; Dallapiccola, B.
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
2004 A., Sarkozy; E., Conti; M. C., Digilio; MARINO TAUSSIG DE BODONIA, Bruno; E., Morini; G., Pacileo; M., Wilson; R., Calabro'; Pizzuti, Antonio; DALLA PICCOLA, Bruno
Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor. Parkinsonism Relat Disord.
2004 Pigullo, S; De Luca, A; Barone, P; Marchese, R; Bellone, E; Colosimo, A; Scaglione, C; Martinelli, P; Di Maria, E; Pizzuti, Antonio; Abbruzzese, G; Dallapiccola, B; Ajmar, F; Mandich, P.
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13
2004 Francesco, Brancati; E. M., Valente; A., Sarkozy; J., Feher; M., Castori; P., Del Duca; R., Mingarelli; Pizzuti, Antonio; B., Dallapiccola
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome
2004 Sarkozy, A; Obregon, Mg; Conti, E; Esposito, G; Mingarelli, R; Pizzuti, Antonio; DALLA PICCOLA, Bruno
Leopard syndrome: a new polyaneurismal association and an update on the molecular genetics of the disease
2004 Yagubian, M; Panneton, Jm; Lindoor, N; Conti, E; Sarkosy, A; Pizzuti, Antonio
A homozigous GJA1 gene mutation causes a Hellermann-Streiff/ODDD overlapping phenotype
2004 Pizzuti, Antonio; Flex, E.; Mingarelli, R.; Salpietro, C; Zelante, L; Dallapiccola, B.
Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism.
2004 D., Zuccarello; Morini, E; Douzgou, S; Ferlin, A; Pizzuti, Antonio; Salpietro, Dc; Foresta, C; Dallapiccola, B.
Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene
2004 Pizzuti, Antonio; Fabbrini, Giovanni; Salehi, L.; Vacca, L.; Inghilleri, Maurizio; Dallapiccola, B.; Berardelli, Alfredo
Role of peroxisome proliferator-activated receptor gamma in amyloid precursor protein processing and amyloid beta-mediated cell death
2005 C., D'Abramo; S., Massone; J. M., Zingg; Pizzuti, Antonio; P., Marambaud; B., Dalla Piccola; A., Azzi; U. M., Marinari; M. A., Pronzato; R., Ricciarelli
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
2005 De Luca, A.; Bottillo, I.; Sarkozy, C.; Carta, C.; Neri, C.; Bellacchio, E.; Schirinzi, A.; Conti, E.; Zampino, G.; Battaglia, A.; Majore, S.; Rinaldi, M. M.; Carella, M.; Marino Taussig De Bodonia, Bruno; Pizzuti, Antonio; Digilio, M. C.; Tartaglia, M.; Dalla Piccola, Bruno
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Nonsyndromic pulmonary valve stenosis and the PTPN11 gene | 2003 | Anna, Sarkozy; Emanuela, Conti; MARINO TAUSSIG DE BODONIA, Bruno; Maria Cristina, Digilio; Vincenzo, Paoletti; Rita, Mingarelli; Giorgia, Esposito; Pizzuti, Antonio; Bruno, Dallapiccola | |
| . Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. | 2003 | Brancati, F; Valente, Em; Davies, Np; Sarkozy, A; Sweeney, Mg; Lomonaco, M; Pizzuti, Antonio; Hanna, Mg; Dallapiccola, B. | |
| Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. | 2003 | Pizzuti, Antonio; Elisabetta, Flex; CARLO DI BONAVENTURA, ; Tania, Dottorini; Gabriella, Egeo; Mario, Manfredi; Bruno, Dallapiccola; Giallonardo, Anna Teresa | |
| Mutations of FOG-2 gene in sporadic cases of Tetralogy of Fallot | 2003 | Pizzuti, Antonio; Sarkozy, A; Newton, Al; Conti, E; Flex, E; Digilio, Mc; Amati, F; Gianni, D; Tandoi, C; Marino Taussig De Bodonia, Bruno; Crossley, M; Dalla Piccola, Bruno | |
| DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene | 2003 | Conti, E; Grifone, N; Sarkozy, A; Tandoi, C; Marino Taussig De Bodonia, Bruno; Digilio, Mc; Mingarelli, R; Pizzuti, Antonio; Dalla Piccola, Bruno | |
| Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12 | 2003 | Flex, E; Mangino, M; Mazzili, M; Martini, A; Migliosi, V; Colosimo, A; Mingarelli, R; Pizzuti, Antonio; Dallapiccola, B. | |
| Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene | 2003 | Defazio, G.; Brancati, F.; Valente, E. M.; Caputo, Viviana; Pizzuti, Antonio; Martino, D.; Abbruzzese, G.; Livrea, P.; Berardelli, Alfredo; DALLA PICCOLA, Bruno | |
| Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: A case-control study | 2004 | Emilio Di, Maria; Rossella, Gulli; Silvia, Begni; Alessandro De, Luca; Stefano, Bignotti; Augusto, Pasini; Emilia, Bellone; Pizzuti, Antonio; Bruno, Dallapiccola; Giuseppe, Novelli; Franco, Ajmar; Massimo, Gennarelli; Paola, Mandich | |
| Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations | 2004 | M., Cristina Digilio; Giuseppe, Pacileo; Anna, Sarkozy; Giuseppe, Limongelli; Emanuela, Conti; Fabiana, Cerrato; MARINO TAUSSIG DE BODONIA, Bruno; Pizzuti, Antonio; R., Calabro'; Bruno, Dallapiccola | |
| Mutations in the Nogo-66 receptor (RTN4R) gene in schizophrenia | 2004 | L., Sinibaldi; DE LUCA, A; Bellacchio, E; Conti, E; Pasini, A; Paloscia, C; Spalletta, G; Caltagirone, C; Pizzuti, Antonio; Dallapiccola, B. | |
| Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome | 2004 | A., Sarkozy; E., Conti; M. C., Digilio; MARINO TAUSSIG DE BODONIA, Bruno; E., Morini; G., Pacileo; M., Wilson; R., Calabro'; Pizzuti, Antonio; DALLA PICCOLA, Bruno | |
| Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor. Parkinsonism Relat Disord. | 2004 | Pigullo, S; De Luca, A; Barone, P; Marchese, R; Bellone, E; Colosimo, A; Scaglione, C; Martinelli, P; Di Maria, E; Pizzuti, Antonio; Abbruzzese, G; Dallapiccola, B; Ajmar, F; Mandich, P. | |
| A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 | 2004 | Francesco, Brancati; E. M., Valente; A., Sarkozy; J., Feher; M., Castori; P., Del Duca; R., Mingarelli; Pizzuti, Antonio; B., Dallapiccola | |
| A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome | 2004 | Sarkozy, A; Obregon, Mg; Conti, E; Esposito, G; Mingarelli, R; Pizzuti, Antonio; DALLA PICCOLA, Bruno | |
| Leopard syndrome: a new polyaneurismal association and an update on the molecular genetics of the disease | 2004 | Yagubian, M; Panneton, Jm; Lindoor, N; Conti, E; Sarkosy, A; Pizzuti, Antonio | |
| A homozigous GJA1 gene mutation causes a Hellermann-Streiff/ODDD overlapping phenotype | 2004 | Pizzuti, Antonio; Flex, E.; Mingarelli, R.; Salpietro, C; Zelante, L; Dallapiccola, B. | |
| Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism. | 2004 | D., Zuccarello; Morini, E; Douzgou, S; Ferlin, A; Pizzuti, Antonio; Salpietro, Dc; Foresta, C; Dallapiccola, B. | |
| Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene | 2004 | Pizzuti, Antonio; Fabbrini, Giovanni; Salehi, L.; Vacca, L.; Inghilleri, Maurizio; Dallapiccola, B.; Berardelli, Alfredo | |
| Role of peroxisome proliferator-activated receptor gamma in amyloid precursor protein processing and amyloid beta-mediated cell death | 2005 | C., D'Abramo; S., Massone; J. M., Zingg; Pizzuti, Antonio; P., Marambaud; B., Dalla Piccola; A., Azzi; U. M., Marinari; M. A., Pronzato; R., Ricciarelli | |
| NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome | 2005 | De Luca, A.; Bottillo, I.; Sarkozy, C.; Carta, C.; Neri, C.; Bellacchio, E.; Schirinzi, A.; Conti, E.; Zampino, G.; Battaglia, A.; Majore, S.; Rinaldi, M. M.; Carella, M.; Marino Taussig De Bodonia, Bruno; Pizzuti, Antonio; Digilio, M. C.; Tartaglia, M.; Dalla Piccola, Bruno |
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