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Titolo Data di pubblicazione Autore(i) File
EFFECTS OF PROLONGED WAKEFULNESS: THE ROLE OF PERIOD3 GENOTYPES AND PERSONALITY TRAITS 1-gen-2013 Barbato, Giuseppe; Costanzo, A; della Monica, C; D'Onofrio, P; Cerrato, Flavia; De Padova, V.
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.
Looking for CDKN1C enhancers 1-gen-2014 Cerrato, Flavia; De Crescenzo, A; Riccio, Andrea
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
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
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
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.
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
Is ZFP57 binding to H19/IGF2: IG-DMR affected in Silver-Russell syndrome? 1-gen-2018 Sparago, Angela; Cerrato, Flavia; 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.
Beckwith-Wiedemann Syndrome 1-gen-2019 Mussa, A; Kalish, J; Cerrato, F; Riccio, A; Ferrero, Gb
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.
Origins of DNA methylation defects in Wilms tumors 1-gen-2019 Anvar, Z.; Acurzio, B.; Roma, J.; Cerrato, F.; Verde, G.
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
Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors 1-gen-2020 Pignata, L.; Palumbo, O.; Cerrato, F.; Acurzio, B.; de Alava, E.; Roma, J.; Gallego, S.; Mora, J.; Carella, M.; Riccio, A.; Verde, G.
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 1-gen-2020 Cubellis, M. V.; Pignata, L.; Verma, A.; Sparago, A.; Del Prete, R.; Monticelli, M.; Calzari, L.; Antona, V.; Melis, D.; Tenconi, R.; Russo, S.; Cerrato, F.; Riccio, A.
DNA Methylation in the Diagnosis of Monogenic Diseases 1-gen-2020 Cerrato, F.; Sparago, A.; Ariani, F.; Brugnoletti, F.; Calzari, L.; Coppede, F.; De Luca, A.; Gervasini, C.; Giardina, E.; Gurrieri, F.; Lo Nigro, C.; Merla, G.; Miozzo, M.; Russo, S.; Sangiorgi, E.; Sirchia, S. M.; Squeo, G. M.; Tabano, S.; Tabolacci, E.; Torrente, I.; Genuardi, M.; Neri, G.; Riccio, A.
Variable expressivity of the beckwith-wiedemann syndrome in four pedigrees segregating loss-of-function variants of cdkn1c 1-gen-2021 Sparago, A.; Cerrato, F.; Pignata, L.; Cammarata-Scalisi, F.; Garavelli, L.; Piscopo, C.; Vancini, A.; Riccio, A.
Mosaic segmental and whole-chromosome upd(11)mat in silver-russell syndrome 1-gen-2021 Pignata, L.; Sparago, A.; Palumbo, O.; Andreucci, E.; Lapi, E.; Tenconi, R.; Carella, M.; Riccio, A.; Cerrato, F.
Mostrati risultati da 21 a 40 di 48
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