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Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
2012 Ferri, L; Guido, C; La Marca, G; Malvagia, S; Cavicchi, C; Fiumara, A; Barone, R; Parini, R; Antuzzi, D; Feliciani, C; Zampetti, A; Manna, Raffaele; Giglio, S; Della Valle, C; Wu, X; Valenzano, K; Benjamin, E; Donati, M; Guerrini, R; Genuardi, Maurizio; Morrone, A.
First molecular characterization and immunolocalization of keratoepithelin in adult human skeletal muscle
2008 Sciandra, Francesca; Morlacchi, Simona; Allamand, Valerie; De Benedetti, Giacomo; Macchia, Gianfranco; Petrucci, Tamara; Bozzi, Manuela; Brancaccio, Andrea
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy
2009 Papi, L; Putignano, A; Congregati, C; Zanna, I; Sera, F; Morrone, D; Falchetti, M; Del Turco, M; Ottini, L; Palli, D; Genuardi, Maurizio
Foxc2 disease mutations identified in lymphedema distichiasis patients impair transcriptional activity and cell proliferation
2020 Tavian, Daniela; Missaglia, Sara; Michelini, S; Maltese, Pe; Manara, E; Mordente, Alvaro; Bertelli, M.
FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function
2016 Tavian, Daniela; Missaglia, Sara; Maltese, Pe; Michelini, S; Fiorentino, A; Ricci, M; Serrani, R; Walter, Ma; Bertelli, M.
Frataxin participates to the hypoxia-induced response in tumors
2011 Guccini, I; Serio, D; Condò, I; Rufini, A; Tomassini, B; Mangiola, Annunziato; Maira, Giulio; Anile, Carmelo; Fina, D; Pallone, F; Mongiardi, Mp; Levi, A; Ventura, N; Testi, R; Malisan, F.
Functional diversity of dystroglycan
2009 Bozzi, Manuela; Morlacchi, Simona; Bigotti, Maria Giulia; Sciandra, Francesca; Brancaccio, Andrea
Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report.
2013 Marangoni, D; Falsini, Benedetto; Piccardi, M; Ambrosio, L; Minnella, Angelo Maria; Savastano, Maria Cristina; Bisti, S; Maccarone, R; Fadda, A; Mello, E; Concolino, P; Capoluongo, E.
Genes and molecular pathways of the osteogenic process
2011 Lattanzi, Wanda; Bernardini, Camilla
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population
2013 Concolino, Paola; Mello Dottoressa, Enrica; Minucci, Angelo; Giardina, Bruno; Capoluongo, Ettore Domenico
Genetic variants associated with drugs-induced immediate hypersensitivity reactions: a PRISMA-compliant systematic review
2016 Oussalah, A; Mayorga, C; Blanca, M; Barbaud, A; Nakonechna, A; Cernadas, J; Gotua, M; Brockow, K; Caubet, J; Bircher, A; Atanaskovic, M; Demoly, P; Kase Tanno, L; Terreehorst, I; Laguna, Jj; Romano, Antonino; Guéant, J.
Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.
2016 Lesseur, C; Diergaarde, B; Olshan, Af; Wünsch Filho, V; Ness, Ar; Liu, Guopeng; Lacko, M; Eluf Neto, J; Franceschi, S; Lagiou, P; Macfarlane, Gj; Richiardi, L; Boccia, Stefania; Polesel, J; Kjaerheim, K; Zaridze, D; Johansson, M; Menezes, Am; Curado, Mp; Robinson, M; Ahrens, W; Canova, C; Znaor, A; Castellsagué, X; Conway, Di; Holcátová, I; Mates, D; Vilensky, M; Healy, Cm; Szeszenia Dąbrowska, N; Fabiánová, E; Lissowska, J; Grandis, Jr; Weissler, Mc; Tajara, Eh; Nunes, Fd; de Carvalho, Mb; Thomas, S; Hung, Rj; Peters, Wh; Herrero, R; Cadoni, Gabriella; Bueno de Mesquita, Hb; Steffen, A; Agudo, A; Shangina, O; Xiao, X; Gaborieau, V; Chabrier, A; Anantharaman, D; Boffetta, Paolo; Amos, Ci; Mckay, Jd; Brennan, P. 1.
Genomic analysis of therapy-related acute promyelocytic leukemias arising after malignant and non-malignant disorders
2013 Ottone, T; Hasan, Sk; Voso, Maria Teresa; Ledda, A; Montefusco, E; Fenu, S; Pagoni, M; Hubmann, M; Lunghi, M; Platzbecker, U; Lo Coco, F.
Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report
2009 Papi, L; Palli, D; Masi, L; Putignano, A; Congregati, C; Zanna, I; Marini, F; Giusti, F; Luzi, E; Tonelli, F; Genuardi, Maurizio; Brandi, M; Falchetti, A.
Grafting and early expression of growth factors from adipose-derived stem cells transplanted into the cochlea, in a Guinea pig model of acoustic trauma
2014 Fetoni, Anna Rita; Lattanzi, Wanda; Eramo, Sara Letizia Maria; Barba, Marta; Paciello, Fabiola; Moriconi, C; Rolesi, Rolando; Michetti, Fabrizio; Troiani, Diana; Paludetti, Gaetano
GSK3β down-regulation in Mesenchymal Stem Cells from patients with Myelodysplastic Syndrome.
2014 Falconi, Giulia; Fabiani, Emiliano; Fianchi, Luana; Spertilli Raffaelli, C; Voso, Maria Teresa; D'Alo', Francesco; Leone, Giuseppe
Gut microbiota composition and frailty in elderly patients with Chronic Kidney Disease
2020 Margiotta, Elisabetta; Miragoli, Francesco; Callegari, Maria Luisa; Vettoretti, Simone; Caldiroli, Lara; Meneghini, Maria; Zanoni, Francesca; Messa, Piergiorgio
HDAC inhibitors for muscular dystrophies: Progress and prospects
2016 Sandona, M.; Consalvi, S.; Tucciarone, L.; Puri, P. L.; Saccone, Valentina
HDAC inhibitors tune miRNAs in extracellular vesicles of dystrophic muscle-resident mesenchymal cells
2020 Sandona, M.; Consalvi, S.; Tucciarone, L.; De Bardi, M.; Scimeca, M.; Angelini, D. F.; Buffa, V.; D'Amico, A.; Bertini, E. S.; Cazzaniga, S.; Bettica, P.; Bouche, M.; Bongiovanni, A.; Puri, P. L.; Saccone, Valentina
High Resolution Melting Analysis (HRMA) for the identification of a rare UGT1A1 promoter polymorphism
2011 Minucci, Angelo; Mello, E; Tripodi, Domenico; Concolino, Paola; Zuppi, Cecilia; Capoluongo, Ettore Domenico
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2012 | Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene | Ferri, L; Guido, C; La Marca, G; Malvagia, S; Cavicchi, C; Fiumara, A; Barone, R; Parini, R; Antuzzi, D; Feliciani, C; Zampetti, A; Manna, Raffaele; Giglio, S; Della Valle, C; Wu, X; Valenzano, K; Benjamin, E; Donati, M; Guerrini, R; Genuardi, Maurizio; Morrone, A. | |
1-gen-2008 | First molecular characterization and immunolocalization of keratoepithelin in adult human skeletal muscle | Sciandra, Francesca; Morlacchi, Simona; Allamand, Valerie; De Benedetti, Giacomo; Macchia, Gianfranco; Petrucci, Tamara; Bozzi, Manuela; Brancaccio, Andrea | |
1-gen-2009 | Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy | Papi, L; Putignano, A; Congregati, C; Zanna, I; Sera, F; Morrone, D; Falchetti, M; Del Turco, M; Ottini, L; Palli, D; Genuardi, Maurizio | |
1-gen-2020 | Foxc2 disease mutations identified in lymphedema distichiasis patients impair transcriptional activity and cell proliferation | Tavian, Daniela; Missaglia, Sara; Michelini, S; Maltese, Pe; Manara, E; Mordente, Alvaro; Bertelli, M. | |
1-gen-2016 | FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function | Tavian, Daniela; Missaglia, Sara; Maltese, Pe; Michelini, S; Fiorentino, A; Ricci, M; Serrani, R; Walter, Ma; Bertelli, M. | |
1-gen-2011 | Frataxin participates to the hypoxia-induced response in tumors | Guccini, I; Serio, D; Condò, I; Rufini, A; Tomassini, B; Mangiola, Annunziato; Maira, Giulio; Anile, Carmelo; Fina, D; Pallone, F; Mongiardi, Mp; Levi, A; Ventura, N; Testi, R; Malisan, F. | |
1-gen-2009 | Functional diversity of dystroglycan | Bozzi, Manuela; Morlacchi, Simona; Bigotti, Maria Giulia; Sciandra, Francesca; Brancaccio, Andrea | |
1-gen-2013 | Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report. | Marangoni, D; Falsini, Benedetto; Piccardi, M; Ambrosio, L; Minnella, Angelo Maria; Savastano, Maria Cristina; Bisti, S; Maccarone, R; Fadda, A; Mello, E; Concolino, P; Capoluongo, E. | |
1-gen-2011 | Genes and molecular pathways of the osteogenic process | Lattanzi, Wanda; Bernardini, Camilla | |
1-gen-2013 | Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population | Concolino, Paola; Mello Dottoressa, Enrica; Minucci, Angelo; Giardina, Bruno; Capoluongo, Ettore Domenico | |
1-gen-2016 | Genetic variants associated with drugs-induced immediate hypersensitivity reactions: a PRISMA-compliant systematic review | Oussalah, A; Mayorga, C; Blanca, M; Barbaud, A; Nakonechna, A; Cernadas, J; Gotua, M; Brockow, K; Caubet, J; Bircher, A; Atanaskovic, M; Demoly, P; Kase Tanno, L; Terreehorst, I; Laguna, Jj; Romano, Antonino; Guéant, J. | |
1-gen-2016 | Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. | Lesseur, C; Diergaarde, B; Olshan, Af; Wünsch Filho, V; Ness, Ar; Liu, Guopeng; Lacko, M; Eluf Neto, J; Franceschi, S; Lagiou, P; Macfarlane, Gj; Richiardi, L; Boccia, Stefania; Polesel, J; Kjaerheim, K; Zaridze, D; Johansson, M; Menezes, Am; Curado, Mp; Robinson, M; Ahrens, W; Canova, C; Znaor, A; Castellsagué, X; Conway, Di; Holcátová, I; Mates, D; Vilensky, M; Healy, Cm; Szeszenia Dąbrowska, N; Fabiánová, E; Lissowska, J; Grandis, Jr; Weissler, Mc; Tajara, Eh; Nunes, Fd; de Carvalho, Mb; Thomas, S; Hung, Rj; Peters, Wh; Herrero, R; Cadoni, Gabriella; Bueno de Mesquita, Hb; Steffen, A; Agudo, A; Shangina, O; Xiao, X; Gaborieau, V; Chabrier, A; Anantharaman, D; Boffetta, Paolo; Amos, Ci; Mckay, Jd; Brennan, P. 1. | |
1-gen-2013 | Genomic analysis of therapy-related acute promyelocytic leukemias arising after malignant and non-malignant disorders | Ottone, T; Hasan, Sk; Voso, Maria Teresa; Ledda, A; Montefusco, E; Fenu, S; Pagoni, M; Hubmann, M; Lunghi, M; Platzbecker, U; Lo Coco, F. | |
1-gen-2009 | Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report | Papi, L; Palli, D; Masi, L; Putignano, A; Congregati, C; Zanna, I; Marini, F; Giusti, F; Luzi, E; Tonelli, F; Genuardi, Maurizio; Brandi, M; Falchetti, A. | |
1-gen-2014 | Grafting and early expression of growth factors from adipose-derived stem cells transplanted into the cochlea, in a Guinea pig model of acoustic trauma | Fetoni, Anna Rita; Lattanzi, Wanda; Eramo, Sara Letizia Maria; Barba, Marta; Paciello, Fabiola; Moriconi, C; Rolesi, Rolando; Michetti, Fabrizio; Troiani, Diana; Paludetti, Gaetano | |
1-gen-2014 | GSK3β down-regulation in Mesenchymal Stem Cells from patients with Myelodysplastic Syndrome. | Falconi, Giulia; Fabiani, Emiliano; Fianchi, Luana; Spertilli Raffaelli, C; Voso, Maria Teresa; D'Alo', Francesco; Leone, Giuseppe | |
1-gen-2020 | Gut microbiota composition and frailty in elderly patients with Chronic Kidney Disease | Margiotta, Elisabetta; Miragoli, Francesco; Callegari, Maria Luisa; Vettoretti, Simone; Caldiroli, Lara; Meneghini, Maria; Zanoni, Francesca; Messa, Piergiorgio | |
1-gen-2016 | HDAC inhibitors for muscular dystrophies: Progress and prospects | Sandona, M.; Consalvi, S.; Tucciarone, L.; Puri, P. L.; Saccone, Valentina | |
1-gen-2020 | HDAC inhibitors tune miRNAs in extracellular vesicles of dystrophic muscle-resident mesenchymal cells | Sandona, M.; Consalvi, S.; Tucciarone, L.; De Bardi, M.; Scimeca, M.; Angelini, D. F.; Buffa, V.; D'Amico, A.; Bertini, E. S.; Cazzaniga, S.; Bettica, P.; Bouche, M.; Bongiovanni, A.; Puri, P. L.; Saccone, Valentina | |
1-gen-2011 | High Resolution Melting Analysis (HRMA) for the identification of a rare UGT1A1 promoter polymorphism | Minucci, Angelo; Mello, E; Tripodi, Domenico; Concolino, Paola; Zuppi, Cecilia; Capoluongo, Ettore Domenico |
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