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Titolo Data di pubblicazione Autore(i) File
Two cases of misinterpretation of molecular results in incontinentia pligmenti, and a PCR-based method to discriminate NEMO/IKK gamma gene deletion 1-gen-2003 Bardaro, Tiziana; Falco, Geppino; Sparago, Angela; Mercadante, Vincenzo; Molins, Esther Gean; Tarantino, Enrico; Ursini, Matilde Valeria; D'Urso, Michele
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome 1-gen-2004 Sparago, Angela; Cerrato, Flavia; Vernucci, M.; BATTISTA FERRERO, G.; CIRILLO SILENGO, M.; Riccio, Andrea
The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster 1-gen-2005 Cerrato, Flavia; Sparago, A.; DI MATTEO, I.; Zou, X.; Dean, W.; Sasaki, H.; Smith, P.; Genesio, R.; Bruggemann, M.; Reik, W.; Riccio, Andrea
Familial posterior helical ear pits 1-gen-2007 Guala, A; Guarino, R; Sparago, A; Riccio, Andrea; Franceschini, P.
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour 1-gen-2007 Sparago, A; Russo, S; Cerrato, Flavia; Ferraiuolo, S; Castorina, P; Selicorni, A; Schwienbacher, C; Negrini, M; Ferrero, Gb; Silengo, Mc; Anichini, C; Larizza, L; Riccio, Andrea
Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer 1-gen-2008 Murrell, Adele; Ito, Yoko; Verde, Gaetano; Huddleston, Joanna; Woodfine, Kathryn; Cirillo Silengo, Margherita; Spreafico, Filippo; Perotti, Daniela; De Crescenzo, Agostina; Sparago, Angela; Cerrato, Flavia; Riccio, Andrea
MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment 1-gen-2008 Priolo, M; Sparago, A; Mammi, C; Cerrato, Flavia; Lagana, C; Riccio, Andrea
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith - Wiedemann syndrome and Wilms' tumour 1-gen-2008 Cerrato, Flavia; Sparago, A.; Verde, G.; DE CRESCENZO, A.; Citro, V.; Cubellis, M.; Rinaldi, M.; Boccuto, L.; Neri, G.; Magnani, C.; D'Angelo, P.; Collini, P.; Perrotti, D.; Sebastio, G.; Maher, E.; Riccio, Andrea
Inherited and sporadic epimutations at the IGF2-H19 locus in beckwith-wiedemann syndrome and wilms' tumor 1-gen-2009 Riccio, Andrea; Sparago, A; Verde, G; DE CRESCENZO, A; Citro, V; Cubellis, Mv; Ferrero, Gb; Silengo, Mc; Russo, S; Larizza, L; Cerrato, Flavia
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome 1-gen-2009 Bliek, J.; Verde, G.; Callaway, J.; Maas, S.; DE CRESCENZO, A.; Sparago, A.; Cerrato, Flavia; Russo, S.; Ferraiuolo, S.; Rinaldi, M. M.; Fischetto, R.; Lalatta, F.; Giordano, L.; Ferrari, P.; Cubellis, M. V.; Larizza, L.; Temple, K.; Mannes, M.; Mackay, D.; Riccio, Andrea
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family 1-gen-2010 Cardarelli, L; Sparago, A; De Crescenzo, A; Nalesso, E; Zavan, B; Cubellis, Mv; Selicorni, A; Cavicchioli, P; Pozzan, Gb; Petrella, M; Riccio, Andrea
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome 1-gen-2011 Nativio, R; Sparago, A; Ito, Y; Weksberg, R; Riccio, Andrea; Murrell, A.
The KCNQ1OT1 imprinting control region and non-coding RNA: New properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases 1-gen-2012 Chiesa, N; De Crescenzo, A; Mishra, K; Perone, L; Carella, M; Palumbo, O; Mussa, A; Sparago, A; Cerrato, Flavia; Russo, S; Lapi, E; Cubellis, Mv; Kanduri, C; Silengo, Mc; Riccio, Andrea; Ferrero, Gb
Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1 1-gen-2013 Baglivo, Ilaria; Esposito, Sabrina; De Cesare, L; Rivellino, A; Sparago, A; Anvar, Z; Riso, V; Cammisa, Marco; Fattorusso, Roberto; Grimaldi, Giuseppe; Riccio, Andrea; Pedone, Paolo Vincenzo
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
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
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.
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
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
Mostrati risultati da 1 a 20 di 36
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