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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.
Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop 1-gen-2013 Iglesias Platas, I; Court, F; Camprubi, C; Sparago, A; Guillaumet Adkins, A; Martin Trujillo, A; Riccio, Andrea; Moore, G. E.; Monk, D.
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
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
Looking for CDKN1C enhancers 1-gen-2014 Cerrato, Flavia; De Crescenzo, A; 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
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 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
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
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
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
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.
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: A paradigm for genomic medicine 1-gen-2016 Mussa, A.; Russo, S.; Larizza, L.; Riccio, Andrea; Ferrero, G. B.
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
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
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
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome 1-gen-2016 Eggermann, Katja; Bliek, Jet; Brioude, Frédéric; Algar, Elizabeth; Buiting, Karin; Russo, Silvia; Tümer, Zeynep; Monk, David; Moore, Gudrun; Antoniadi, Thalia; Macdonald, Fiona; Netchine, Irène; Lombardi, Paolo; Soellner, Lukas; Begemann, Matthias; Prawitt, Dirk; Maher, Eamonn R; Mannens, Marcel; Riccio, Andrea; Weksberg, Rosanna; Lapunzina, Pablo; Grønskov, Karen; Mackay, Deborah JG; Eggermann, Thomas
Mostrati risultati da 61 a 80 di 125
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