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PIGNATA, Laura

PIGNATA, Laura  

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

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Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 1-gen-2023 Elefante, Pierandrea; Spedicati, Beatrice; Faletra, Flavio; Pignata, Laura; Cerrato, Flavia; Riccio, Andrea; Barbi, Egidio; Memo, Luigi; Travan, Laura
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.
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.
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
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.
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum 1-gen-2022 Passaretti, Francesco; Pignata, Laura; Vitiello, Giuseppina; Alesi, Viola; D'Elia, Gemma; Cecere, Francesco; Acquaviva, Fabio; De Brasi, Daniele; Novelli, Antonio; Riccio, Andrea; Iolascon, Achille; Cerrato, Flavia
Epigenetic Alterations in Inborn Errors of Immunity 1-gen-2022 Romano, Roberta; Cillo, Francesca; Moracas, Cristina; Pignata, Laura; Nannola, Chiara; Toriello, Elisabetta; De Rosa, Antonio; Cirillo, Emilia; Coppola, Emma; Giardino, Giuliana; Brunetti-Pierri, Nicola; Riccio, Andrea; Pignata, Claudio
Epigenetics: An opportunity to shape innate and adaptive immune responses 1-gen-2022 Liotti, A; Ferrara, Al; Loffredo, S; Galdiero, Mr; Varricchi, G; Di Rella, F; Maniscalco, Gt; Belardo, M; Vastano, R; Prencipe, R; Pignata, L; Romano, R; Spadaro, G; de Candia, P; Pezone, A; De Rosa, V.
Germline (epi)genetics reveals high predisposition in females: A 5-year, nationwide, prospective Wilms tumour cohort 1-gen-2023 Stoltze, U. K.; Hildonen, M.; Hansen, T. V. O.; Foss-Skiftesvik, J.; Byrjalsen, A.; Lundsgaard, M.; Pignata, L.; Gronskov, K.; Tumer, Z.; Schmiegelow, K.; Brok, J. S.; Wadt, K. A. W.
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.
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.
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
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
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization 1-gen-2018 Nazaryan-Petersen, Lusine; Eisfeldt, Jesper; Pettersson, Maria; Lundin, Johanna; Nilsson, Daniel; Wincent, Josephine; Lieden, Agne; Lovmar, Lovisa; Ottosson, Jesper; Gacic, Jelena; Mäkitie, Outi; Nordgren, Ann; Vezzi, Francesco; Wirta, Valtteri; Käller, Max; Hjortshøj, Tina Duelund; Jespersgaard, Cathrine; Houssari, Rayan; Pignata, Laura; Bak, Mads; Tommerup, Niels; Lundberg, Elisabeth Syk; Tümer, Zeynep; Lindstrand, Anna
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.
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
Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors 1-gen-2024 Cillo, F.; Coppola, E.; Habetswallner, F.; Cecere, F.; Pignata, L.; Toriello, E.; De Rosa, A.; Grilli, L.; Ammendola, A.; Salerno, P.; Romano, R.; Cirillo, E.; Merla, G.; Riccio, A.; Pignata, C.; Giardino, G.
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.