Sfoglia per Autore
Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1 [*Esposito S, *Baglivo I, co-first authors]
2013 Baglivo, I; Esposito, Sabrina; De Cesare, L; Sparago, A; Anvar, Z; Riso, V; Cammisa, M; Fattorusso, Roberto; Grimaldi, G; Riccio, Andrea; Pedone, Paolo Vincenzo
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction
2013 De Crescenzo, A; Sparago, A; Cerrato, Flavia; Palumbo, O; Carella, M; Miceli, M; Bronshtein, M; Riccio, Andrea; Yaron, Y.
Prevalence of beckwith-wiedemann syndrome in North West of Italy
2013 Mussa, A; Russo, S; De Crescenzo, A; Chiesa, N; Molinatto, C; Selicorni, A; Richiardi, L; Larizza, L; Silengo, Mc; Riccio, Andrea; Ferrero, Gb
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
2013 Beygo, J; Citro, V; Sparago, A; De Crescenzo, A; Cerrato, Flavia; Heitmann, M; Rademacher, K; Guala, A; Enklaar T., Anichini C; Cirillo Silengo, M; Graf, N; Prawitt, D; Cubellis, Mv; Horstemke, B; Buiting, K; Riccio, Andrea
Giant Breast Tumors in a Patient With Beckwith-Wiedemann Syndrome
2014 Cappuccio, G; De Crescenzo, A; Ciancia, G; Canta, L; Moio, M; Mataro, I; Varone, V; Pettinato, G; Palumbo, O; Carella, M; Riccio, Andrea; Brunetti Pierri, N.
The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus
2014 Court, Franck; Camprubi, Cristina; Garcia, Cristina Vicente; Guillaumet-Adkins, Amy; Sparago, Angela; Seruggia, Davide; Sandoval, Juan; Esteller, Manel; Martin-Trujillo, Alex; Riccio, Andrea; Montoliu, Lluis; Monk, David
Looking for CDKN1C enhancers
2014 Cerrato, Flavia; De Crescenzo, A; Riccio, Andrea
Clinical utility gene card for: Beckwith-Wiedemann Syndrome
2014 Eggermann, T; Algar, E; Lapunzina, P; Mackay, D; Maher, E. R.; Mannens, M; Netchine, I; Prawitt, D; Riccio, Andrea; Temple, Ik; Weksberg, R.
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: A twelve-year follow-up and literature review
2015 Stagi, Stefano; Lapi, Elisabetta; Pantaleo, Marilena; Carella, Massimo; Petracca, Antonio; De Crescenzo, Agostina; Zelante, Leopoldo; Riccio, Andrea; de Martino, Maurizio
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype
2015 De Crescenzo, Agostina; Citro, Valentina; Freschi, Andrea; Sparago, Angela; Palumbo, Orazio; Cubellis, Maria Vittoria; Carella, Massimo; Castelluccio, Pia; Cavaliere, Maria Luigia; Cerrato, Flavia; Riccio, Andrea
Congenital imprinting disorders: Eucid.net -a network to decipher their aetiology and to improve the diagnostic and clinical care
2015 Eggermann, Thomas; Netchine, Irène; Temple, Karen; Tümer, Zeynep; Monk, David; Mackay, Deborah; Grønskov, Karin; Riccio, Andrea; Linglart, Agnès; Maher, Eamonn R.
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
2015 Eggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn R; Temple, I. Karen; Tümer, Zeynep; Monk, David; Mackay, Deborah J. G; Grønskov, Karen; Riccio, Andrea; Linglart, Agnès; Netchine, Irène
Insulin Like Growth Factor 2 Expression in the Rat Brain Both in Basal Condition and following Learning Predominantly Derives from the Maternal Allele
2015 Ye, Xiaojing; Kohtz, Amy; Pollonini, Gabriella; Riccio, Andrea; Alberini, Cristina M.
A novel large deletion of the ICR1 region including H19 and putative enhancer elements
2015 Fryssira, Helen; Amenta, Stella; Kanber, Deniz; Sofocleous, Christalena; Lykopoulou, Evangelia; Kanaka Gantenbein, Christina; Cerrato, Flavia; Lüdecke, Hermann Josef; Bens, Susanne; Riccio, Andrea; Buiting, Karin
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol
2016 Mussa, Alessandro; Molinatto, Cristina; Baldassarre, Giuseppina; Riberi, Evelise; Russo, Silvia; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista
Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes
2016 Boonen, Susanne Eriksen; Freschi, Andrea; Christensen, Rikke; Valente, Federica Maria; Lildballe, Dorte Launholt; Perone, Lucia; Palumbo, Orazio; Carella, Massimo; Uldbjerg, Niels; Sparago, Angela; Riccio, Andrea; Cerrato, Flavia
Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans
2016 Sanchez Delgado, Marta; Riccio, Andrea; Eggermann, Thomas; Maher, Eamonn R.; Lapunzina, Pablo; Mackay, Deborah; Monk, David
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome
2016 Mussa, Alessandro; Di Candia, Stefania; Russo, Silvia; Catania, Serena; De Pellegrin, Maurizio; Di Luzio, Luisa; Ferrari, Mario; Tortora, Chiara; Meazzini, Maria Costanza; Brusati, Roberto; Milani, Donatella; Zampino, Giuseppe; Montirosso, Rosario; Riccio, Andrea; Selicorni, Angelo; Cocchi, Guido; Ferrero, Giovanni Battista
ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells
2016 Riso, Vincenzo; Cammisa, Marco; Kukreja, Harpreet; Anvar, Zahra; Verde, Gaetano; Sparago, Angela; Acurzio, Basilia; Lad, Shraddha; Lonardo, Enza; Sankar, Aditya; Helin, Kristian; Feil, Robert; Fico, Annalisa; Angelini, Claudia; Grimaldi, Giovanna; Riccio, Andrea
ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells
2016 Anvar, Zahra; Cammisa, Marco; Riso, Vincenzo; Baglivo, Ilaria; Kukreja, Harpreet; Sparago, Angela; Girardot, Michael; Lad, Shraddha; De Feis, Italia; Cerrato, Flavia; Angelini, Claudia; Feil, Robert; Pedone, Paolo Vincenzo; Grimaldi, Giovanna; Riccio, Andrea
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1 [*Esposito S, *Baglivo I, co-first authors] | 1-gen-2013 | Baglivo, I; Esposito, Sabrina; De Cesare, L; Sparago, A; Anvar, Z; Riso, V; Cammisa, M; Fattorusso, Roberto; Grimaldi, G; Riccio, Andrea; Pedone, Paolo Vincenzo | |
| Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction | 1-gen-2013 | De Crescenzo, A; Sparago, A; Cerrato, Flavia; Palumbo, O; Carella, M; Miceli, M; Bronshtein, M; Riccio, Andrea; Yaron, Y. | |
| Prevalence of beckwith-wiedemann syndrome in North West of Italy | 1-gen-2013 | Mussa, A; Russo, S; De Crescenzo, A; Chiesa, N; Molinatto, C; Selicorni, A; Richiardi, L; Larizza, L; Silengo, Mc; Riccio, Andrea; Ferrero, Gb | |
| The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites | 1-gen-2013 | Beygo, J; Citro, V; Sparago, A; De Crescenzo, A; Cerrato, Flavia; Heitmann, M; Rademacher, K; Guala, A; Enklaar T., Anichini C; Cirillo Silengo, M; Graf, N; Prawitt, D; Cubellis, Mv; Horstemke, B; Buiting, K; Riccio, Andrea | |
| Giant Breast Tumors in a Patient With Beckwith-Wiedemann Syndrome | 1-gen-2014 | Cappuccio, G; De Crescenzo, A; Ciancia, G; Canta, L; Moio, M; Mataro, I; Varone, V; Pettinato, G; Palumbo, O; Carella, M; Riccio, Andrea; Brunetti Pierri, N. | |
| The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus | 1-gen-2014 | Court, Franck; Camprubi, Cristina; Garcia, Cristina Vicente; Guillaumet-Adkins, Amy; Sparago, Angela; Seruggia, Davide; Sandoval, Juan; Esteller, Manel; Martin-Trujillo, Alex; Riccio, Andrea; Montoliu, Lluis; Monk, David | |
| Looking for CDKN1C enhancers | 1-gen-2014 | Cerrato, Flavia; De Crescenzo, A; Riccio, Andrea | |
| Clinical utility gene card for: Beckwith-Wiedemann Syndrome | 1-gen-2014 | Eggermann, T; Algar, E; Lapunzina, P; Mackay, D; Maher, E. R.; Mannens, M; Netchine, I; Prawitt, D; Riccio, Andrea; Temple, Ik; Weksberg, R. | |
| A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: A twelve-year follow-up and literature review | 1-gen-2015 | Stagi, Stefano; Lapi, Elisabetta; Pantaleo, Marilena; Carella, Massimo; Petracca, Antonio; De Crescenzo, Agostina; Zelante, Leopoldo; Riccio, Andrea; de Martino, Maurizio | |
| A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype | 1-gen-2015 | De Crescenzo, Agostina; Citro, Valentina; Freschi, Andrea; Sparago, Angela; Palumbo, Orazio; Cubellis, Maria Vittoria; Carella, Massimo; Castelluccio, Pia; Cavaliere, Maria Luigia; Cerrato, Flavia; Riccio, Andrea | |
| Congenital imprinting disorders: Eucid.net -a network to decipher their aetiology and to improve the diagnostic and clinical care | 1-gen-2015 | Eggermann, Thomas; Netchine, Irène; Temple, Karen; Tümer, Zeynep; Monk, David; Mackay, Deborah; Grønskov, Karin; Riccio, Andrea; Linglart, Agnès; Maher, Eamonn R. | |
| Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci | 1-gen-2015 | Eggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn R; Temple, I. Karen; Tümer, Zeynep; Monk, David; Mackay, Deborah J. G; Grønskov, Karen; Riccio, Andrea; Linglart, Agnès; Netchine, Irène | |
| Insulin Like Growth Factor 2 Expression in the Rat Brain Both in Basal Condition and following Learning Predominantly Derives from the Maternal Allele | 1-gen-2015 | Ye, Xiaojing; Kohtz, Amy; Pollonini, Gabriella; Riccio, Andrea; Alberini, Cristina M. | |
| A novel large deletion of the ICR1 region including H19 and putative enhancer elements | 1-gen-2015 | Fryssira, Helen; Amenta, Stella; Kanber, Deniz; Sofocleous, Christalena; Lykopoulou, Evangelia; Kanaka Gantenbein, Christina; Cerrato, Flavia; Lüdecke, Hermann Josef; Bens, Susanne; Riccio, Andrea; Buiting, Karin | |
| Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol | 1-gen-2016 | Mussa, Alessandro; Molinatto, Cristina; Baldassarre, Giuseppina; Riberi, Evelise; Russo, Silvia; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista | |
| Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes | 1-gen-2016 | Boonen, Susanne Eriksen; Freschi, Andrea; Christensen, Rikke; Valente, Federica Maria; Lildballe, Dorte Launholt; Perone, Lucia; Palumbo, Orazio; Carella, Massimo; Uldbjerg, Niels; Sparago, Angela; Riccio, Andrea; Cerrato, Flavia | |
| Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans | 1-gen-2016 | Sanchez Delgado, Marta; Riccio, Andrea; Eggermann, Thomas; Maher, Eamonn R.; Lapunzina, Pablo; Mackay, Deborah; Monk, David | |
| Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome | 1-gen-2016 | Mussa, Alessandro; Di Candia, Stefania; Russo, Silvia; Catania, Serena; De Pellegrin, Maurizio; Di Luzio, Luisa; Ferrari, Mario; Tortora, Chiara; Meazzini, Maria Costanza; Brusati, Roberto; Milani, Donatella; Zampino, Giuseppe; Montirosso, Rosario; Riccio, Andrea; Selicorni, Angelo; Cocchi, Guido; Ferrero, Giovanni Battista | |
| ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells | 1-gen-2016 | Riso, Vincenzo; Cammisa, Marco; Kukreja, Harpreet; Anvar, Zahra; Verde, Gaetano; Sparago, Angela; Acurzio, Basilia; Lad, Shraddha; Lonardo, Enza; Sankar, Aditya; Helin, Kristian; Feil, Robert; Fico, Annalisa; Angelini, Claudia; Grimaldi, Giovanna; Riccio, Andrea | |
| ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells | 1-gen-2016 | Anvar, Zahra; Cammisa, Marco; Riso, Vincenzo; Baglivo, Ilaria; Kukreja, Harpreet; Sparago, Angela; Girardot, Michael; Lad, Shraddha; De Feis, Italia; Cerrato, Flavia; Angelini, Claudia; Feil, Robert; Pedone, Paolo Vincenzo; Grimaldi, Giovanna; Riccio, Andrea |
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