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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 1-gen-2016 Mussa, Alessandro; Russo, Silvia; de Crescenzo, Agostina; Freschi, Andrea; Calzari, Luciano; Maitz, Silvia; Macchiaiolo, Marina; Molinatto, Cristina; Baldassarre, Giuseppina; Mariani, Milena; Tarani, Luigi; Bedeschi, Maria Francesca; Milani, Donatella; Melis, Daniela; Bartuli, Andrea; Cubellis, Maria Vittoria; Selicorni, Angelo; Cirillo Silengo, Margherita; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista
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
Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes 1-gen-2016 Hur, Stella K.; Freschi, Andrea; Ideraabdullah, Folami; Thorvaldsen, Joanne L.; Luense, Lacey J.; Weller, Angela H.; Berger, Shelley L.; Cerrato, Flavia; Riccio, Andrea; Bartolomei, Marisa S.
Fetal growth patterns in Beckwith-Wiedemann syndrome 1-gen-2016 Mussa, A; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M. F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M. V.; Selicorni, A.; Silengo, M. C.; Larizza, L.; Riccio, Andrea; Ferrero, G. B.
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
Recent Advances in Imprinting Disorders 1-gen-2017 Soellner, L.; Begemann, M.; Mackay, D. J. G.; Grønskov, K.; Tümer, Z.; Maher, E. R.; Temple, I. K.; Monk, D.; Riccio, Andrea; Linglart, A.; Netchine, I.; Eggermann, T.
Identification of trombospondin-1 as a novel amelogenin interactor by functional proteomics 1-gen-2017 Capolupo, Angela; Cassiano, Chiara; Casapullo, Agostino; Andreotti, Giuseppina; Cubellis, Maria V.; Riccio, Andrea; Riccio, Raffaele; Monti, Maria C.
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome 1-gen-2017 Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista
Beckwith-Wiedemann syndrome. Clinical and etiopathogenic aspects of a model genomic imprinting entity 1-gen-2018 Cammarata-Scalisi, Francisco; Avendaño, Andrea; Stock, Frances; Callea, Michele; Sparago, Angela; Riccio, Andrea
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice 1-gen-2018 Freschi, A; Hur, Sk; Valente, Fm; Ideraabdullah, Fy; Sparago, A; Gentile, Mt; Oneglia, A; Di Nucci, D; Colucci-D'Amato, L; Thorvaldsen, Jl; Bartolomei, Ms; Riccio, A; Cerrato, F.
Meg3 Non-coding RNA Expression Controls Imprinting by Preventing Transcriptional Upregulation in cis 1-gen-2018 Sanli, Ildem; Lalevée, Sébastien; Cammisa, Marco; Perrin, Aurélien; Rage, Florence; Llères, David; Riccio, Andrea; Bertrand, Edouard; Feil, Robert
Is ZFP57 binding to H19/IGF2: IG-DMR affected in Silver-Russell syndrome? 1-gen-2018 Sparago, Angela; Cerrato, Flavia; Riccio, Andrea
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement 1-gen-2018 Brioude, Frédéric; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; Hennekam, Raoul C; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah J. G; Riccio, Andrea; Maher, Eamonn R.
Beckwith-Wiedemann Syndrome 1-gen-2019 Mussa, A; Kalish, J; Cerrato, F; Riccio, A; Ferrero, Gb
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes 1-gen-2019 Crippa, M.; Bonati, M. T.; Calzari, L.; Picinelli, C.; Gervasini, C.; Sironi, A.; Bestetti, I.; Guzzetti, S.; Bellone, S.; Selicorni, A.; Mussa, A.; Riccio, A.; Ferrero, G. B.; Russo, S.; Larizza, L.; Finelli, P.
Genomic imprinting disorders: lessons on how genome, epigenome and environment interact 1-gen-2019 Monk, David; Mackay, Deborah J. G.; Eggermann, Thomas; Maher, Eamonn R.; Riccio, Andrea
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus 1-gen-2019 Valente, Federica Maria; Sparago, Angela; Freschi, Andrea; Hill-Harfe, Katherine; Maas, Saskia M.; Frints, Suzanna Gerarda Maria; Alders, Marielle; Pignata, Laura; Franzese, Monica; Angelini, Claudia; Carli, Diana; Mussa, Alessandro; Gazzin, Andrea; Gabbarini, Fulvio; Acurzio, Basilia; Ferrero, Giovanni Battista; Bliek, Jet; Williams, Charles A.; Riccio, Andrea; Cerrato, Flavia
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype 1-gen-2019 Sparago, A.; Verma, A.; Patricelli, M. G.; Pignata, L.; Russo, S.; Calzari, L.; De Francesco, N.; Del Prete, R.; Palumbo, O.; Carella, M.; Mackay, D. J. G.; Rezwan, F. I.; Angelini, C.; Cerrato, F.; Cubellis, M. V.; Riccio, A.
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation 1-gen-2019 Demond, H.; Anvar, Z.; Jahromi, B. N.; Sparago, A.; Verma, A.; Davari, M.; Calzari, L.; Russo, S.; Jahromi, M. A.; Monk, D.; Andrews, S.; Riccio, A.; Kelsey, G.
Wnt/beta-catenin signaling pathway safeguards epigenetic stability and homeostasis of mouse embryonic stem cells 1-gen-2019 Theka, Ilda; Sottile, Francesco; Cammisa, Marco; Bonnin, Sarah; Sanchez-Delgado, Marta; Di Vicino, Umberto; Neguembor, Maria Victoria; Arumugam, Karthik; Aulicino, Francesco; Monk, David; Riccio, Andrea; Cosma, Maria Pia
Mostrati risultati da 81 a 100 di 125
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