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Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1
2020 Pastorino, L; Andreotti, V; Dalmasso, B; Vanni, I; Ciccarese, G; Mandalà, M; Spadola, G; Pizzichetta, Ma; Ponti, G; Tibiletti, Mg; Sala, E; Genuardi, M; Chiurazzi, P; Maccanti, G; Manoukian, S; Sestini, S; Danesi, R; Zampiga, V; La Starza, R; Stanganelli, I; Ballestrero, A; Mastracci, L; Grillo, F; Sciallero, S; Cecchi, F; Tanda, Et; Spagnolo, F; Queirolo, P; Italian Melanoma Intergroup, (IMI); Goldstein, Am; Bruno, W; Ghiorzo, P.
Insulin-like growth factor I (CA) repeats are associated with higher melanoma's Breslow index but not associated with the presence of the melanoma. A pilot study
2008 Santonocito, Concetta; Paradisi, Andrea; Capizzi, Rodolfo; Concolino, Paola; Lavieri, Maria Michela; Lanza Silveri, Sara; De Luca, Daniele; Catricalà, Caterina; Di Carlo, Aldo; Zuppi, Cecilia; Ameglio, Franco; Capoluongo, Ettore Domenico
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
2011 Neri, Giovanni; Zollino, Marcella; Gurrieri, Fiorella; Orteschi, Daniela; Marangi, Giuseppe
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study
2011 Onder, Graziano; Capoluongo, Ettore Domenico; Giovannini, Simona; Concolino, Paola; Russo, Andrea; Liperoti, Rosa; Bernabei, Roberto; Landi, Francesco
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay
2020 Nevado, J.; Ho, K. S.; Zollino, Marcella; Blanco, R.; Cobaleda, C.; Golzio, C.; Beaudry-Bellefeuille, I.; Berrocoso, S.; Limeres, J.; Barruz, P.; Serrano-Martin, C.; Cafiero, C.; Malaga, I.; Marangi, Giuseppe; Campos-Sanchez, E.; Moriyon-Iglesias, T.; Marquez, S.; Markham, L.; Twede, H.; Lortz, A.; Olson, L.; Sheng, X.; Weng, C.; Wassman, E. R.; Newcomb, T.; Wassman, E. R.; Carey, J. C.; Battaglia, A.; Lopez-Granados, E.; Douglas, D.; Lapunzina, P.
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family
2013 Marangi, Giuseppe; Orteschi, Daniela; Milano, Valentina; Mancano, Giorgia; Zollino, Marcella
Is MED13L-related intellectual disability a recognizable syndrome?
2019 Torring, P. M.; Larsen, M. J.; Brasch-Andersen, C.; Krogh, L. N.; Kibaek, M.; Laulund, L.; Illum, N.; Dunkhase-Heinl, U.; Wiesener, A.; Popp, B.; Marangi, Giuseppe; Hjortshoj, T. D.; Ek, J.; Vogel, I.; Becher, N.; Roos, L.; Zollino, Marcella; Fagerberg, C. R.
Jacquet erosive diaper dermatitis: a therapeutic challenge.
2009 Paradisi, Andrea; Capizzi, Rodolfo; Ghitti, Francesca; Lanza Silveri, Sara; Rendeli, Claudia; Guerriero, Cristina
Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene
2013 Tasca, Giorgio; Moro, F; Aiello, C; Cassandrini, D; Fiorillo, C; Bertini, E; Bruno, C; Santorelli, Fm; Ricci, Enzo
Long time no see: the type and contre-type concept
2010 Neri, Giovanni; Di Raimo, Francesca Romana
Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical entity characterized by ST-segment elevation, short QT interval and sudden cardiac death
2007 Antzelevitch, C; Pollevick, G; Cordeiro, Jm; Casis, O; Sangiunetti, M; Aizawa, Y; Guerchicoff, F; Pfeiffer, R; Oliva, Antonio; Wollnik, B; Gelber, P; Bonaros, E; Burashnicov, E; Wu, Yuesheng; Sargent, J; Schikel, S; Oberhaiden, R; Bhatia, A; Hsu, L; Haïssaguerre, M; Schimpf, R; Borggrefe, M; Wolpert, C.
Mannose-Binding Lectin Codon 54 Gene Polymorphism and Vulvovaginal Candidiasis: A Systematic Review and Meta-Analysis
2014 Nedovic, B; Posteraro, Brunella; Leoncini, Emanuele; Ruggeri, Alberto; Amore, Rosarita; Sanguinetti, Maurizio; Ricciardi, Walter; Boccia, Stefania
Mannose-binding lectin polymorphism and pulmonary outcome in premature neonates: a pilot study
2007 Capoluongo, E.; Vento, Giovanni; Rocchetti, S.; Giardina, E.; Concolino, P.; Sinibaldi, C.; Santonocito, Concetta; Vendettuoli, Valentina; Tana, Milena; Tirone, C.; Zuppi, Cecilia; Romagnoli, Costantino; Novelli, G.; Giardina, Bruno; Ameglio, F.
Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1
2015 Midro, At; Zollino, Marcella; Wiland, E; Panasiuk, B; Iwanowski, Ps; Murdolo, Marina; Śmigiel, R; Sąsiadek, M; Pilch, J; Kurpisz, M.
Meta- and pooled analyses of the Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer risk: a HuGE-GSEC Review.
2008 Boccia, Stefania; Hung, Rj; Ricciardi, Walter; Gianfagna, Francesco; Ebert, Mpa; Fang, Jy; Gao, Cm; Gotze, T; Graziano, F; Lacasana Navarro, M; Lin, D; Lopez Carrillo, L; Qiao, Yl; Shen, H; Weng, Yr; Zhang, Ff; Van Duijn, Cornelia M; Boffetta, P; Taioli, T.
Meta-analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and risk of head and neck and lung cancer
2009 Boccia, Stefania; Boffetta, Paolo; Brennan, Paul; Ricciardi, Walter; Gianfagna, Francesco; Matsuo, Keitaro; Van Duijn, Cornelia M; J. Hung, Rayjean
“Minimal” holoprosencephaly in a 14q deletion syndrome patient
2017 Della Giustina, Elvio; Iodice, Alessandro; Spagnoli, Carlotta; Giovannini, Simona; Frattini, Daniele; Fusco, Carlo; Gobbi, Giuseppe; Zollino, Marcella; Neri, Giovanni
A missense mutation in CASK causes FG syndrome in an Italian family.
2009 Neri, Giovanni; Piluso, G.; D'Amico, F.; Saccone, V.; Bismuto, E.; Rotundo, Il; Di Domenico, M.; Aurino, S.; Schwartz, C. E.; Nigro, V.
[Molecular epidemiology in healthcare-associated infections: guidelines of the Italian Society of Hygiene, Preventive Medicine and Public Health (SItI)]
2015 Boccia, Stefania; Agodi, Antonella; Barchitta, M; Colotto, Marco; Ianuale, Carolina; Quattrocchi, Andrea
Morbo di Hodgkin familiare: considerazioni su due famiglie in cui la malattia ha interessato padre e figlio
1983 Marietti, Giovanni; Riccardi, Riccardo; Reali, Laura; De Carolis, Maria Pia; Corbo, Serena; Rumi, Carlo; Ginfelice, M.
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2020 | Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 | Pastorino, L; Andreotti, V; Dalmasso, B; Vanni, I; Ciccarese, G; Mandalà, M; Spadola, G; Pizzichetta, Ma; Ponti, G; Tibiletti, Mg; Sala, E; Genuardi, M; Chiurazzi, P; Maccanti, G; Manoukian, S; Sestini, S; Danesi, R; Zampiga, V; La Starza, R; Stanganelli, I; Ballestrero, A; Mastracci, L; Grillo, F; Sciallero, S; Cecchi, F; Tanda, Et; Spagnolo, F; Queirolo, P; Italian Melanoma Intergroup, (IMI); Goldstein, Am; Bruno, W; Ghiorzo, P. | |
1-gen-2008 | Insulin-like growth factor I (CA) repeats are associated with higher melanoma's Breslow index but not associated with the presence of the melanoma. A pilot study | Santonocito, Concetta; Paradisi, Andrea; Capizzi, Rodolfo; Concolino, Paola; Lavieri, Maria Michela; Lanza Silveri, Sara; De Luca, Daniele; Catricalà, Caterina; Di Carlo, Aldo; Zuppi, Cecilia; Ameglio, Franco; Capoluongo, Ettore Domenico | |
1-gen-2011 | Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome | Neri, Giovanni; Zollino, Marcella; Gurrieri, Fiorella; Orteschi, Daniela; Marangi, Giuseppe | |
1-gen-2011 | Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study | Onder, Graziano; Capoluongo, Ettore Domenico; Giovannini, Simona; Concolino, Paola; Russo, Andrea; Liperoti, Rosa; Bernabei, Roberto; Landi, Francesco | |
1-gen-2020 | International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay | Nevado, J.; Ho, K. S.; Zollino, Marcella; Blanco, R.; Cobaleda, C.; Golzio, C.; Beaudry-Bellefeuille, I.; Berrocoso, S.; Limeres, J.; Barruz, P.; Serrano-Martin, C.; Cafiero, C.; Malaga, I.; Marangi, Giuseppe; Campos-Sanchez, E.; Moriyon-Iglesias, T.; Marquez, S.; Markham, L.; Twede, H.; Lortz, A.; Olson, L.; Sheng, X.; Weng, C.; Wassman, E. R.; Newcomb, T.; Wassman, E. R.; Carey, J. C.; Battaglia, A.; Lopez-Granados, E.; Douglas, D.; Lapunzina, P. | |
1-gen-2013 | Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family | Marangi, Giuseppe; Orteschi, Daniela; Milano, Valentina; Mancano, Giorgia; Zollino, Marcella | |
1-gen-2019 | Is MED13L-related intellectual disability a recognizable syndrome? | Torring, P. M.; Larsen, M. J.; Brasch-Andersen, C.; Krogh, L. N.; Kibaek, M.; Laulund, L.; Illum, N.; Dunkhase-Heinl, U.; Wiesener, A.; Popp, B.; Marangi, Giuseppe; Hjortshoj, T. D.; Ek, J.; Vogel, I.; Becher, N.; Roos, L.; Zollino, Marcella; Fagerberg, C. R. | |
1-gen-2009 | Jacquet erosive diaper dermatitis: a therapeutic challenge. | Paradisi, Andrea; Capizzi, Rodolfo; Ghitti, Francesca; Lanza Silveri, Sara; Rendeli, Claudia; Guerriero, Cristina | |
1-gen-2013 | Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene | Tasca, Giorgio; Moro, F; Aiello, C; Cassandrini, D; Fiorillo, C; Bertini, E; Bruno, C; Santorelli, Fm; Ricci, Enzo | |
1-gen-2010 | Long time no see: the type and contre-type concept | Neri, Giovanni; Di Raimo, Francesca Romana | |
1-gen-2007 | Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical entity characterized by ST-segment elevation, short QT interval and sudden cardiac death | Antzelevitch, C; Pollevick, G; Cordeiro, Jm; Casis, O; Sangiunetti, M; Aizawa, Y; Guerchicoff, F; Pfeiffer, R; Oliva, Antonio; Wollnik, B; Gelber, P; Bonaros, E; Burashnicov, E; Wu, Yuesheng; Sargent, J; Schikel, S; Oberhaiden, R; Bhatia, A; Hsu, L; Haïssaguerre, M; Schimpf, R; Borggrefe, M; Wolpert, C. | |
1-gen-2014 | Mannose-Binding Lectin Codon 54 Gene Polymorphism and Vulvovaginal Candidiasis: A Systematic Review and Meta-Analysis | Nedovic, B; Posteraro, Brunella; Leoncini, Emanuele; Ruggeri, Alberto; Amore, Rosarita; Sanguinetti, Maurizio; Ricciardi, Walter; Boccia, Stefania | |
1-gen-2007 | Mannose-binding lectin polymorphism and pulmonary outcome in premature neonates: a pilot study | Capoluongo, E.; Vento, Giovanni; Rocchetti, S.; Giardina, E.; Concolino, P.; Sinibaldi, C.; Santonocito, Concetta; Vendettuoli, Valentina; Tana, Milena; Tirone, C.; Zuppi, Cecilia; Romagnoli, Costantino; Novelli, G.; Giardina, Bruno; Ameglio, F. | |
1-gen-2015 | Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1 | Midro, At; Zollino, Marcella; Wiland, E; Panasiuk, B; Iwanowski, Ps; Murdolo, Marina; Śmigiel, R; Sąsiadek, M; Pilch, J; Kurpisz, M. | |
1-gen-2008 | Meta- and pooled analyses of the Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer risk: a HuGE-GSEC Review. | Boccia, Stefania; Hung, Rj; Ricciardi, Walter; Gianfagna, Francesco; Ebert, Mpa; Fang, Jy; Gao, Cm; Gotze, T; Graziano, F; Lacasana Navarro, M; Lin, D; Lopez Carrillo, L; Qiao, Yl; Shen, H; Weng, Yr; Zhang, Ff; Van Duijn, Cornelia M; Boffetta, P; Taioli, T. | |
1-gen-2009 | Meta-analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and risk of head and neck and lung cancer | Boccia, Stefania; Boffetta, Paolo; Brennan, Paul; Ricciardi, Walter; Gianfagna, Francesco; Matsuo, Keitaro; Van Duijn, Cornelia M; J. Hung, Rayjean | |
1-gen-2017 | “Minimal” holoprosencephaly in a 14q deletion syndrome patient | Della Giustina, Elvio; Iodice, Alessandro; Spagnoli, Carlotta; Giovannini, Simona; Frattini, Daniele; Fusco, Carlo; Gobbi, Giuseppe; Zollino, Marcella; Neri, Giovanni | |
1-gen-2009 | A missense mutation in CASK causes FG syndrome in an Italian family. | Neri, Giovanni; Piluso, G.; D'Amico, F.; Saccone, V.; Bismuto, E.; Rotundo, Il; Di Domenico, M.; Aurino, S.; Schwartz, C. E.; Nigro, V. | |
1-gen-2015 | [Molecular epidemiology in healthcare-associated infections: guidelines of the Italian Society of Hygiene, Preventive Medicine and Public Health (SItI)] | Boccia, Stefania; Agodi, Antonella; Barchitta, M; Colotto, Marco; Ianuale, Carolina; Quattrocchi, Andrea | |
1-gen-1983 | Morbo di Hodgkin familiare: considerazioni su due famiglie in cui la malattia ha interessato padre e figlio | Marietti, Giovanni; Riccardi, Riccardo; Reali, Laura; De Carolis, Maria Pia; Corbo, Serena; Rumi, Carlo; Ginfelice, M. |
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