Sfoglia per ???browse.type.metadata.subjectErc2011??? LS2_9 - Genetic epidemiology
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
2010 Martinelli, S; De Luca, A; Cavaliere, M. L; Zampino, Giuseppe; Gelb, Bd; Tartaglia, Marco
HLA class II allele analysis in MuSK-positive myasthenia gravis suggests a role for DQ5.
2009 Bartoccioni, Emanuela; Scuderi, Flavia; Augugliaro, A.; Chiatamonte Ranieri, Sofia; Sauchielli, Donato; Alboini, Paolo; Marino, Mariapaola; Evoli, Amelia
Homocysteinemia is inversely correlated with platelet count and inversely correlated with sE-and sP-selectin levels in females homozygous for C677T methylenetetrahydrofolate reductase
2005 Rongioletti, Mauro; Baldassini, Mauro; Papa, Fabrizio; Capoluongo, Ettore Domenico; Rocca, Bianca; De Cristofaro, Raimondo; Salvati, Giuseppina; Larciprete, Giovanni; Stroppolo, Annalisa; Angelucci, Piero Antonio; Cirese, Elio; Ameglio, Franco
Hypoxia-inducible factor-1α(Pro-582-Ser) polymorphism prevents iron deprivation in healthy blood donors
2013 Torti, Lorenza; Teofili, Luciana; Capodimonti, Sara; Nuzzolo, Eugenia Rosa; Iachininoto, Maria Grazia; Massini, Giuseppina; Coluzzi, S; Tafuri, A; Fiorin, F; Girelli, G; Zini Tanzi, Gina; Larocca, Luigi Maria
Identification of a potential proinflammatory genetic profile influencing carotid plaque vulnerability.
2014 Biscetti, Federico; Straface, Giuseppe; Bertoletti, Giovanni; Vincenzoni, Claudio; Snider, Francesco; Arena, Vincenzo; Landolfi, Raffaele; Flex, Andrea
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4
2017 Bedeschi, Maria Francesca; Marangi, Giuseppe; Calvello, Maria Rosaria; Ricciardi, Stefania; Leone, Francesca Pia Chiara; Baccarin, Marco; Guerneri, Silvana; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Frangella, Silvia; Keena, Beth; Harr, Margaret H.; Zackai, Elaine; Zollino, Marcella
[Implementation of Italian guidelines on public health genomics in Italy: a challenging policy of the NHS]
2015 Boccia, Stefania; Federici, A; Colotto, Marco; Villari, P.
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
2015 Huang, J; Howie, B; Mccarthy, S; Memari, Y; Walter, K; Min, Jl; Danecek, P; Malerba, G; Trabetti, E; Zheng, H; Gambaro, Giovanni; Richards, Jb; Durbin, R; Timpson, Nj; Marchini, J; Soranzo, N.
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
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2010 | Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. | Martinelli, S; De Luca, A; Cavaliere, M. L; Zampino, Giuseppe; Gelb, Bd; Tartaglia, Marco | |
| 1-gen-2009 | HLA class II allele analysis in MuSK-positive myasthenia gravis suggests a role for DQ5. | Bartoccioni, Emanuela; Scuderi, Flavia; Augugliaro, A.; Chiatamonte Ranieri, Sofia; Sauchielli, Donato; Alboini, Paolo; Marino, Mariapaola; Evoli, Amelia | |
| 1-gen-2005 | Homocysteinemia is inversely correlated with platelet count and inversely correlated with sE-and sP-selectin levels in females homozygous for C677T methylenetetrahydrofolate reductase | Rongioletti, Mauro; Baldassini, Mauro; Papa, Fabrizio; Capoluongo, Ettore Domenico; Rocca, Bianca; De Cristofaro, Raimondo; Salvati, Giuseppina; Larciprete, Giovanni; Stroppolo, Annalisa; Angelucci, Piero Antonio; Cirese, Elio; Ameglio, Franco | |
| 1-gen-2013 | Hypoxia-inducible factor-1α(Pro-582-Ser) polymorphism prevents iron deprivation in healthy blood donors | Torti, Lorenza; Teofili, Luciana; Capodimonti, Sara; Nuzzolo, Eugenia Rosa; Iachininoto, Maria Grazia; Massini, Giuseppina; Coluzzi, S; Tafuri, A; Fiorin, F; Girelli, G; Zini Tanzi, Gina; Larocca, Luigi Maria | |
| 1-gen-2014 | Identification of a potential proinflammatory genetic profile influencing carotid plaque vulnerability. | Biscetti, Federico; Straface, Giuseppe; Bertoletti, Giovanni; Vincenzoni, Claudio; Snider, Francesco; Arena, Vincenzo; Landolfi, Raffaele; Flex, Andrea | |
| 1-gen-2017 | Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 | Bedeschi, Maria Francesca; Marangi, Giuseppe; Calvello, Maria Rosaria; Ricciardi, Stefania; Leone, Francesca Pia Chiara; Baccarin, Marco; Guerneri, Silvana; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Frangella, Silvia; Keena, Beth; Harr, Margaret H.; Zackai, Elaine; Zollino, Marcella | |
| 1-gen-2015 | [Implementation of Italian guidelines on public health genomics in Italy: a challenging policy of the NHS] | Boccia, Stefania; Federici, A; Colotto, Marco; Villari, P. | |
| 1-gen-2015 | Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel | Huang, J; Howie, B; Mccarthy, S; Memari, Y; Walter, K; Min, Jl; Danecek, P; Malerba, G; Trabetti, E; Zheng, H; Gambaro, Giovanni; Richards, Jb; Durbin, R; Timpson, Nj; Marchini, J; Soranzo, N. | |
| 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 |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile