Sfoglia per Titolo
Mutation analysis of the ΔR 608 mutation causing Niemann-Pick disease type B from blood spot cards in sicilian people
2004-01-01 VOCCA L; BELLIA C; BIVONA G; FERRARO L; GUGLIELMINI E; MACAIONE V; GIUFFRE' M; CORSELLO G; SCHUCHMAN EH; CIACCIO M
Mutation in beta-fibrinogen gene (C148T) is important risk factor in patients affected by thromboembolic disease.
2008-01-01 CAMMARIERI S; LO SASSO B; CARUSO A; BELLIA C; BIVONA G; RAINERI R; CAROLLO R; LIGA L; CIACCIO M
MUTATION IN CANDIDATE GENES ACCOUNT FOR A SMALL MINORITY OF HYPOBETALIPOPROTEINEMIAS AND NGS ANALYSIS SUPPORT POLYGENICITY IN MUTATION-NEGATIVE PATIENTS
2020-01-01 Giammanco, Antonina; Scrimali, C; Spina, R; Ingrassia, V; Brucato, F; Valenti, V; Cefalu, AB; Misiano, G; Altieri, GI; Noto, D; Barbagallo, CM; Ganci, A; Fayer, F; Averna, M
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
2019-01-01 Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S.
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
2017-01-01 Calã¬, F.; Chiavetta, V.; Ruggeri, G.; Piccione, M.; Selicorni, A.; Palazzo, D.; Bonsignore, M.; Cereda, A.; Elia, M.; Failla, P.; Figura, M.; Fiumara, A.; Maitz, S.; Luana Mandarà , G.; Mattina, T.; Ragalmuto, A.; Romano, C.; Ruggieri, M.; Salluzzo, R.; Saporoso, A.; Schepis, C.; Sorge, G.; Spanã², M.; Tortorella, G.; Romano, V.
A mutation-based radiomics signature predicts response to imatinib in Gastrointestinal Stromal Tumors (GIST)
2023-07-10 Cappello, Giovanni; Giannini, Valentina; Cannella, Roberto; Tabone, Emanuele; Ambrosini, Ilaria; Molea, Francesca; Damiani, Nicolò; Landolfi, Ilenia; Serra, Giovanni; Porrello, Giorgia; Gozzo, Cecilia; Incorvaia, Lorena; Badalamenti, Giuseppe; Grignani, Giovanni; Merlini, Alessandra; D'Ambrosio, Lorenzo; Bartolotta, Tommaso Vincenzo; Regge, Daniele
Mutational analysis of BRCA1 gene in sicilian patient at risk for inherited breast and/or ovarian cancer: experience of reference center the biomolecular characterization of neoplasm and genetic screening of hereditary tumors.
2005-01-01 CAL V CORSALE S; AGNESE V; AUGELLO C; BRUNO L; CAMMARERI P; CASCIO S; GARGANO G; GREGORIO V; GULLO G; LA ROCCA; SISTO PS; VALERIO M R; NAPOLI L; VIENI S; FRICANO S; AGNELLO G; DI FEDE G; MARTORANA A; RUSSO A
Mutational analysis of BRCA1 gene in sicilian patients at risk for inherited breast and/or ovarian cancer: experience of reference centre for the biomolecular characterization of neoplasms and genetic screening of hereditary tumors.
2005-01-01 V CALO'; S CORSALE; V AGNESE; C AUGELLO; L BRUNO; P CAMMARERI; S CASCIO; G GARGANO; V GREGORIO; GULLO A; G LA ROCCA; PS SISTO; MR VALERIO; L NAPOLI; S VIENI; S FRICANO; G AGNELLO; G DI FEDE; A MARTORANA; V BAZAN; A RUSSO
Mutations and deregulation of Ras/Raf/MEK/ERK and PI3K/PTEN/Akt/mTOR cascades which alter therapy response.
2012-01-01 McCubrey, JA; Steelman, LS; Chappell, WH; Abrams, SL; Montalto, G; Cervello, M; Nicoletti, F; Fagone, P; Malaponte, G; Mazzarino, MC; Candido, S; Libra, M; Bäsecke, J; Mijatovic, S; Maksimovic-Ivanic, D; Milella, M; Tafuri, A; Cocco, L; Evangelisti, C; Chiarini, F; Martelli, AM
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion
2019-01-01 Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N
Mutations in Factor V Leiden (G1691A) and Prothrombin (G2021A) genes are important risk factors for venous thromboembolism
2007-01-01 CARUSO C; SCAZZONE C; LIO E; CAMMARIERI S; BELLIA; MINGOIA G E CIACCIO M
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
2005-01-01 DI LEO E; LANCELLOTTI S; PENACCHIONI JY; CEFALU AB; AVERNA M; PISCIOTTA L; BERTOLINI S; CALANDRA S; GABELLI C; TARUGI P
MUTATIONS IN THE CETP GENE IN ITALIAN SUBJECTS WITH HYPERALPHALIPOPROTEINEMIA
2007-01-01 CEFALU' AB; DI LEO E; MARTINI S; VIGNA G; NOTO D; MAGNOLO L; BARBAGALLO CM; TARUGI P; AVERNA MR
Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia
2002-08-01 Kohl S.; Baumann B.; Rosenberg T.; Kellner U.; Lorenz B.; Vadala' M.; Jacobson S.G.; Wissinger B.
Mutations in the GLA gene and LysoGb3: Is it really Anderson-Fabry disease?
2018-01-01 Duro G.; Zizzo C.; Cammarata G.; Burlina A.; Burlina A.; Polo G.; Scalia S.; Oliveri R.; Sciarrino S.; Francofonte D.; Alessandro R.; Pisani A.; Palladino G.; Napoletano R.; Tenuta M.; Masarone D.; Limongelli G.; Riccio E.; Frustaci A.; Chimenti C.; Ferri C.; Pieruzzi F.; Pieroni M.; Spada M.; Castana C.; Caserta M.; Monte I.; Rodolico M.S.; Feriozzi S.; Battaglia Y.; Amico L.; Losi M.A.; Autore C.; Lombardi M.; Zoccali C.; Testa A.; Postorino M.; Mignani R.; Zachara E.; Giordano A.; Colomba P.
Mutations in the HFE Gene and Cardiovascular Disease Risk An Individual Patient Data Meta-Analysis of 53 880 Subjects
2008-01-01 van der Daphne, LA; Rovers, MM; Grobbee,DE; Marx, JJM; Waalen,J; Ellervik, C;Nordestgaard, BG; Olynyk, JK; Mills, PR; Shepherd,J; Grandchamp, B; Boer, JMA; Caruso, C; Arca, M; Meyer,BJ; van der Schouw, YT
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
2014-01-01 Johnson, JO; Pioro, EP; Boehringer, A; Chia, R; Feit, H5; Renton, AE; Pliner, HA; Abramzon, Y6; Marangi, G; Winborn, BJ; Gibbs, JR; Nalls, MA; Morgan, S; Shoai, M; Hardy, J; Pittman, A; Orrell, RW; Malaspina, A; Sidle, KC; Fratta, P; Harms, MB; Baloh, RH; Pestronk, A; Weihl, CC; Rogaeva, E; Zinman, L; Drory, VE; Borghero, G; Mora, G; Calvo, A; Rothstein, JD; ITALSGEN Consortium (including Cammarosano,S; Canosa, A; Moglia, C); Drepper, C; Sendtner, M; Singleton, AB; Taylor, JP; Cookson, MR; Restagno, G; Sabatelli, M; Bowser, R; Chiò, A; Traynor, BJ.; Moglia, C.; Canosa, A.
Mutations of p62/Sequestosome 1 Gene (p62/SQSTM1) in 4 Italian Families Affected by Paget’s Disease of Bone (PDB)
2004-01-01 FALCHETTI A; MARINI F; DEL MONTE F; STRIGOLI D; ZOZZINI A; TANIN A; MASI L; DI STEFANO M; ISAIA G; RINI GB; DE FEO ML; MADDALI S; MATUCCI CERINIC M; BENUCCI M; MARIN G; MATUCCI A; FERIOLI V; ULIVIERI FM; GIANNINI S; SARTORI L; BRAGA V; ADAMI S; DI MATTEO L; BRANDI ML
Mutations of the MC1R gene in Sicilian goat breeds, relationships with coat colours and perspectives for their use in breed traceability systems of goat products
2007-01-01 BERETTI F; FINOCCHIARO R; PORTOLANO B; RUSSO V; DAVOLI R; FONTANESI L
Mutazione Omozigote del gene SBDS in una paziente affetta da Sindrome di Shwachman-Diamond
2005-01-01 MANCUSO G; F GAGLIANO; G LICASTRO
| Data di pubblicazione | Titolo | Autori | Tipologia | Autore(i) | File |
|---|---|---|---|---|---|
| 1-gen-2004 | Mutation analysis of the ΔR 608 mutation causing Niemann-Pick disease type B from blood spot cards in sicilian people | VOCCA, LaviniaBELLIA, ChiaraBIVONA, GiuliaGUGLIELMINI, EgidioGIUFFRE, MarioCORSELLO, GiovanniCIACCIO, Marcello + | 10 - Proceedings::Proceedings | VOCCA L; BELLIA C; BIVONA G; FERRARO L; GUGLIELMINI E; MACAIONE V; GIUFFRE' M; CORSELLO G; SCHUCHMAN EH; CIACCIO M | |
| 1-gen-2008 | Mutation in beta-fibrinogen gene (C148T) is important risk factor in patients affected by thromboembolic disease. | CAMMARIERI, SalvatoreLO SASSO, BrunaCARUSO, AntoniettaBELLIA, ChiaraBIVONA, GiuliaCIACCIO, Marcello + | 10 - Proceedings::Proceedings | CAMMARIERI S; LO SASSO B; CARUSO A; BELLIA C; BIVONA G; RAINERI R; CAROLLO R; LIGA L; CIACCIO M | |
| 1-gen-2020 | MUTATION IN CANDIDATE GENES ACCOUNT FOR A SMALL MINORITY OF HYPOBETALIPOPROTEINEMIAS AND NGS ANALYSIS SUPPORT POLYGENICITY IN MUTATION-NEGATIVE PATIENTS | Giammanco, AntoninaScrimali, CSpina, RIngrassia, VBrucato, FCefalu, ABMisiano, GAltieri, GINoto, DBarbagallo, CMGanci, AFayer, FAverna, M + | 01 - Contributo in rivista::1.05 Abstract in atti di convegno pubblicato in rivista | Giammanco, Antonina; Scrimali, C; Spina, R; Ingrassia, V; Brucato, F; Valenti, V; Cefalu, AB; Misiano, G; Altieri, GI; Noto, D; Barbagallo, CM; Ganci, A; Fayer, F; Averna, M | |
| 1-gen-2019 | Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene | Vadala M + | 01 - Contributo in rivista::1.01 Articolo in rivista | Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S. | |
| 1-gen-2017 | Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform | PICCIONE, MariaRomano, V. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Calã¬, F.; Chiavetta, V.; Ruggeri, G.; Piccione, M.; Selicorni, A.; Palazzo, D.; Bonsignore, M.; Cereda, A.; Elia, M.; Failla, P.; Figura, M.; Fiumara, A.; Maitz, S.; Luana Mandarà , G.; Mattina, T.; Ragalmuto, A.; Romano, C.; Ruggieri, M.; Salluzzo, R.; Saporoso, A.; Schepis, C.; Sorge, G.; Spanã², M.; Tortorella, G.; Romano, V. | |
| 10-lug-2023 | A mutation-based radiomics signature predicts response to imatinib in Gastrointestinal Stromal Tumors (GIST) | Cannella, RobertoPorrello, GiorgiaGozzo, CeciliaIncorvaia, LorenaBadalamenti, GiuseppeBartolotta, Tommaso Vincenzo + | 01 - Contributo in rivista::1.01 Articolo in rivista | Cappello, Giovanni; Giannini, Valentina; Cannella, Roberto; Tabone, Emanuele; Ambrosini, Ilaria; Molea, Francesca; Damiani, Nicolò; Landolfi, Ilenia; Serra, Giovanni; Porrello, Giorgia; Gozzo, Cecilia; Incorvaia, Lorena; Badalamenti, Giuseppe; Grignani, Giovanni; Merlini, Alessandra; D'Ambrosio, Lorenzo; Bartolotta, Tommaso Vincenzo; Regge, Daniele | |
| 1-gen-2005 | Mutational analysis of BRCA1 gene in sicilian patient at risk for inherited breast and/or ovarian cancer: experience of reference center the biomolecular characterization of neoplasm and genetic screening of hereditary tumors. | AGNESE, ValentinaAUGELLO, ClaudiaBRUNO, LoredanaCAMMARERI, PatriziaCASCIO, SandraGREGORIO, ValterSISTO, Pasqua SandraVALERIO M. RNAPOLI, LuisaVIENI, SalvatoreRUSSO, Antonio + | 10 - Proceedings::Proceedings | CAL V CORSALE S; AGNESE V; AUGELLO C; BRUNO L; CAMMARERI P; CASCIO S; GARGANO G; GREGORIO V; GULLO G; LA ROCCA; SISTO PS; VALERIO M R; NAPOLI L; VIENI S; FRICANO S; AGNELLO G; DI FEDE G; MARTORANA A; RUSSO A | |
| 1-gen-2005 | Mutational analysis of BRCA1 gene in sicilian patients at risk for inherited breast and/or ovarian cancer: experience of reference centre for the biomolecular characterization of neoplasms and genetic screening of hereditary tumors. | CALO', ValentinaAGNESE, ValentinaAUGELLO, ClaudiaCAMMARERI, PatriziaCASCIO, SandraGREGORIO, ValterGULLO, AriannaSISTO, Pasqua SandraMR VALERIONAPOLI, LuisaBAZAN, VivianaRUSSO, Antonio + | 10 - Proceedings::Proceedings | V CALO'; S CORSALE; V AGNESE; C AUGELLO; L BRUNO; P CAMMARERI; S CASCIO; G GARGANO; V GREGORIO; GULLO A; G LA ROCCA; PS SISTO; MR VALERIO; L NAPOLI; S VIENI; S FRICANO; G AGNELLO; G DI FEDE; A MARTORANA; V BAZAN; A RUSSO | |
| 1-gen-2012 | Mutations and deregulation of Ras/Raf/MEK/ERK and PI3K/PTEN/Akt/mTOR cascades which alter therapy response. | MONTALTO, Giuseppe + | 01 - Contributo in rivista::1.01 Articolo in rivista | McCubrey, JA; Steelman, LS; Chappell, WH; Abrams, SL; Montalto, G; Cervello, M; Nicoletti, F; Fagone, P; Malaponte, G; Mazzarino, MC; Candido, S; Libra, M; Bäsecke, J; Mijatovic, S; Maksimovic-Ivanic, D; Milella, M; Tafuri, A; Cocco, L; Evangelisti, C; Chiarini, F; Martelli, AM | |
| 1-gen-2019 | Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion | La Bella V + | 01 - Contributo in rivista::1.01 Articolo in rivista | Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N | |
| 1-gen-2007 | Mutations in Factor V Leiden (G1691A) and Prothrombin (G2021A) genes are important risk factors for venous thromboembolism | CARUSO, AntoniettaSCAZZONE, ConcettaCAMMARIERI, SalvatoreBELLIA, ChiaraCIACCIO, Marcello + | 10 - Proceedings::Proceedings | CARUSO C; SCAZZONE C; LIO E; CAMMARIERI S; BELLIA; MINGOIA G E CIACCIO M | |
| 1-gen-2005 | Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. | CEFALU', Angelo BaldassareAVERNA, Maurizio + | 01 - Contributo in rivista::1.01 Articolo in rivista | DI LEO E; LANCELLOTTI S; PENACCHIONI JY; CEFALU AB; AVERNA M; PISCIOTTA L; BERTOLINI S; CALANDRA S; GABELLI C; TARUGI P | |
| 1-gen-2007 | MUTATIONS IN THE CETP GENE IN ITALIAN SUBJECTS WITH HYPERALPHALIPOPROTEINEMIA | CEFALU', Angelo BaldassareNOTO DBARBAGALLO, Carlo MariaAVERNA, Maurizio + | 10 - Proceedings::Proceedings | CEFALU' AB; DI LEO E; MARTINI S; VIGNA G; NOTO D; MAGNOLO L; BARBAGALLO CM; TARUGI P; AVERNA MR | |
| 1-ago-2002 | Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia | Vadala' M. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Kohl S.; Baumann B.; Rosenberg T.; Kellner U.; Lorenz B.; Vadala' M.; Jacobson S.G.; Wissinger B. | |
| 1-gen-2018 | Mutations in the GLA gene and LysoGb3: Is it really Anderson-Fabry disease? | Alessandro R. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Duro G.; Zizzo C.; Cammarata G.; Burlina A.; Burlina A.; Polo G.; Scalia S.; Oliveri R.; Sciarrino S.; Francofonte D.; Alessandro R.; Pisani A.; Palladino G.; Napoletano R.; Tenuta M.; Masarone D.; Limongelli G.; Riccio E.; Frustaci A.; Chimenti C.; Ferri C.; Pieruzzi F.; Pieroni M.; Spada M.; Castana C.; Caserta M.; Monte I.; Rodolico M.S.; Feriozzi S.; Battaglia Y.; Amico L.; Losi M.A.; Autore C.; Lombardi M.; Zoccali C.; Testa A.; Postorino M.; Mignani R.; Zachara E.; Giordano A.; Colomba P. | |
| 1-gen-2008 | Mutations in the HFE Gene and Cardiovascular Disease Risk An Individual Patient Data Meta-Analysis of 53 880 Subjects | CARUSO, Calogero + | 01 - Contributo in rivista::1.01 Articolo in rivista | van der Daphne, LA; Rovers, MM; Grobbee,DE; Marx, JJM; Waalen,J; Ellervik, C;Nordestgaard, BG; Olynyk, JK; Mills, PR; Shepherd,J; Grandchamp, B; Boer, JMA; Caruso, C; Arca, M; Meyer,BJ; van der Schouw, YT | |
| 1-gen-2014 | Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. | MOGLIA, CristinaCANOSA, Antonio + | 01 - Contributo in rivista::1.01 Articolo in rivista | Johnson, JO; Pioro, EP; Boehringer, A; Chia, R; Feit, H5; Renton, AE; Pliner, HA; Abramzon, Y6; Marangi, G; Winborn, BJ; Gibbs, JR; Nalls, MA; Morgan, S; Shoai, M; Hardy, J; Pittman, A; Orrell, RW; Malaspina, A; Sidle, KC; Fratta, P; Harms, MB; Baloh, RH; Pestronk, A; Weihl, CC; Rogaeva, E; Zinman, L; Drory, VE; Borghero, G; Mora, G; Calvo, A; Rothstein, JD; ITALSGEN Consortium (including Cammarosano,S; Canosa, A; Moglia, C); Drepper, C; Sendtner, M; Singleton, AB; Taylor, JP; Cookson, MR; Restagno, G; Sabatelli, M; Bowser, R; Chiò, A; Traynor, BJ.; Moglia, C.; Canosa, A. | |
| 1-gen-2004 | Mutations of p62/Sequestosome 1 Gene (p62/SQSTM1) in 4 Italian Families Affected by Paget’s Disease of Bone (PDB) | RINI, Giovam Battista + | 10 - Proceedings::Proceedings | FALCHETTI A; MARINI F; DEL MONTE F; STRIGOLI D; ZOZZINI A; TANIN A; MASI L; DI STEFANO M; ISAIA G; RINI GB; DE FEO ML; MADDALI S; MATUCCI CERINIC M; BENUCCI M; MARIN G; MATUCCI A; FERIOLI V; ULIVIERI FM; GIANNINI S; SARTORI L; BRAGA V; ADAMI S; DI MATTEO L; BRANDI ML | |
| 1-gen-2007 | Mutations of the MC1R gene in Sicilian goat breeds, relationships with coat colours and perspectives for their use in breed traceability systems of goat products | BERETTI, FrancescaFINOCCHIARO, RaffaellaPORTOLANO, Baldassare + | 10 - Proceedings::Proceedings | BERETTI F; FINOCCHIARO R; PORTOLANO B; RUSSO V; DAVOLI R; FONTANESI L | |
| 1-gen-2005 | Mutazione Omozigote del gene SBDS in una paziente affetta da Sindrome di Shwachman-Diamond | MANCUSO, Giacomo + | 09 - Altro::9.1 Altro | MANCUSO G; F GAGLIANO; G LICASTRO |
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