SPARAGO, ANGELA

SPARAGO, ANGELA  

Dipartimento di Scienze e Tecnologie Ambientali Biologiche e Farmaceutiche (DISTABiF)  

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Titolo Data di pubblicazione Autore(i) File
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
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy 1-gen-2020 Fatemi, N.; Salehi, N.; Pignata, L.; Palumbo, P.; Cubellis, M. V.; Ramazanali, F.; Ray, P.; Varkiani, M.; Reyhani-Sabet, F.; Biglari, A.; Sparago, A.; Acurzio, B.; Palumbo, O.; Carella, M.; Riccio, A.; Totonchi, M.
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
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.
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
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.
Familial posterior helical ear pits 1-gen-2007 Guala, A; Guarino, R; Sparago, A; Riccio, Andrea; Franceschini, P.
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
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
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.
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
Is ZFP57 binding to H19/IGF2: IG-DMR affected in Silver-Russell syndrome? 1-gen-2018 Sparago, Angela; Cerrato, Flavia; Riccio, Andrea
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.
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.
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
Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor (multiple letters) 1-gen-2005 Prawitt D.; Enklaar T.; Gartner-Rupprecht B.; Spangenberg C.; Lausch E.; Reutzel D.; Fees S.; Korzon M.; Brozek I.; Limon J.; Housman D.E.; Pelletier J.; Zabel B.; Cerrato F.; Sparago A.; Farina L.; Ferrero G.B.; Silengo M.C.; Riccio A.
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
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.
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