IRIS

SPARAGO, ANGELA

SPARAGO, ANGELA  

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

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Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances 1-gen-2025 Cecere, Francesco; Pignata, Laura; D'Angelo, Emilia; Giaccari, Carlo; Saadat, Abu; Sparago, Angela; Angelini, Claudia; Hay Mele, Bruno; Mussa, Alessandro; Ferrero, Giovanni Battista; Scarano, Gioacchino; Gori, Giulia; Di Maria, Emilio; Romano, Corrado; Tarani, Luigi; Piscopo, Carmelo; Scala, Iris; Tenorio, Jair Antonio; Lapunzina, Pablo; Cerrato, Flavia; Riccio, Andrea
Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans 1-gen-2025 Cecere, Francesco; Relator, Raissa; Levy, Michael; Verma, Ankit; Mcconkey, Haley; Mele, Bruno Hay; Pignata, Laura; Giaccari, Carlo; D'Angelo, Emilia; Saha, Subham; Saadat, Abu; Sparago, Angela; Angelini, Claudia; Cerrato, Flavia; Sadikovic, Bekim; Riccio, Andrea
Molecular and Clinical Features of Adrenocortical Tumors in Beckwith–Wiedemann Spectrum 1-gen-2024 Carli, D.; Rondot, F.; Luca, M.; Campello, A.; Vallero, S. G.; Tirtei, E.; Gazzin, A.; Cardaropoli, S.; Montanari, F.; Graziano, C.; Quarello, P.; Saadat, A.; Sparago, A.; Ferrero, G. B.; Fagioli, F.; Mussa, A.
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism? 1-gen-2023 Pignata, Laura; Cecere, Francesco; Acquaviva, Fabio; D'Angelo, Emilia; Cioffi, Daniela; Pellino, Valeria; Palumbo, Orazio; Palumbo, Pietro; Carella, Massimo; Sparago, Angela; De Brasi, Daniele; Cerrato, Flavia; Riccio, Andrea
Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer 1-gen-2023 Cecere, F.; Pignata, L.; Hay Mele, B.; Saadat, A.; D'Angelo, E.; Palumbo, O.; Palumbo, P.; Carella, M.; Scarano, G.; Rossi, G. B.; Angelini, C.; Sparago, A.; Cerrato, F.; Riccio, A.
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development 1-gen-2023 Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D'Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 1-gen-2022 Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances 1-gen-2022 Pignata, Laura; Cecere, Francesco; Verma, Ankit; Hay Mele, Bruno; Monticelli, Maria; Acurzio, Basilia; Giaccari, Carlo; Sparago, Angela; Hernandez Mora, Jose Ramon; Monteagudo-Sánchez, Ana; Esteller, Manel; Pereda, Arrate; Tenorio-Castano, Jair; Palumbo, Orazio; Carella, Massimo; Prontera, Paolo; Piscopo, Carmelo; Accadia, Maria; Lapunzina, Pablo; Cubellis, Maria Vittoria; de Nanclares, Guiomar Perez; Monk, David; Riccio, Andrea; Cerrato, Flavia
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy 1-gen-2021 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.
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.
The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model 1-gen-2021 Freschi, A.; Del Prete, R.; Pignata, L.; Cecere, F.; Manfrevola, F.; Mattia, M.; Cobellis, G.; Sparago, A.; Bartolomei, M. S.; Riccio, A.; Cerrato, F.
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.
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.
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.
Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity 1-gen-2020 Cammarata-Scalisi, F.; Callea, M.; Stock, F.; Zambito, V.; Sparago, A.; 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.
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.
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
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
Is ZFP57 binding to H19/IGF2: IG-DMR affected in Silver-Russell syndrome? 1-gen-2018 Sparago, Angela; Cerrato, Flavia; Riccio, Andrea