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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.
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.
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.
A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype 1-gen-2020 Mio, C.; Allegri, L.; Passon, N.; Bregant, E.; Demori, E.; Franzoni, A.; Driul, D.; Riccio, A.; Damante, G.; Baldan, F.
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.
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.
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.
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.
ZBTB2 protein is a new partner of the Nucleosome Remodeling andDeacetylase (NuRD) complex 1-gen-2021 Russo, Rosita; Russo, Veronica; Cecere, Francesco; Valletta, Mariangela; Gentile, Maria Teresa; Luca, Colucci-D'Amato; Angelini, Claudia; Riccio, Andrea; Pedone, Paolo Vincenzo; Chambery, Angela; Baglivo, Ilaria
Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs 1-gen-2021 Acurzio, B.; Verma, A.; Polito, A.; Giaccari, C.; Cecere, F.; Fioriniello, S.; Della Ragione, F.; Fico, A.; Cerrato, F.; Angelini, C.; Feil, R.; Riccio, A.
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
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 Antonio Novelli, Daniele; Riccio, Andrea; Iolascon, Achille; Cerrato, Flavia
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences 1-gen-2022 Eggermann, Thomas; Yapici, Elzem; Bliek, Jet; Pereda, Arrate; Begemann, Matthias; Russo, Silvia; Tannorella, Pierpaola; Calzari, Luciano; de Nanclares, Guiomar Perez; Lombardi, Paola; Temple, I Karen; Mackay, Deborah; Riccio, Andrea; Kagami, Masayo; Ogata, Tsutomu; Lapunzina, Pablo; Monk, David; Maher, Eamonn R; Tümer, Zeynep
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
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
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders 1-gen-2022 Mackay, Deborah; Bliek, Jet; Kagami, Masayo; Tenorio-Castano, Jair; Pereda, Arrate; Brioude, Frédéric; Netchine, Irène; Papingi, Dzhoy; de Franco, Elisa; Lever, Margaret; Sillibourne, Julie; Lombardi, Paola; Gaston, Véronique; Tauber, Maithé; Diene, Gwenaelle; Bieth, Eric; Fernandez, Luis; Nevado, Julian; Tümer, Zeynep; Riccio, Andrea; Maher, Eamonn R; Beygo, Jasmin; Tannorella, Pierpaola; Russo, Silvia; de Nanclares, Guiomar Perez; Temple, I Karen; Ogata, Tsutomu; Lapunzina, Pablo; Eggermann, Thomas
The mismatch-repair proteins MSH2 and MSH6 interact with the imprinting control regions through the ZFP57-KAP1 complex 1-gen-2022 Acurzio, Basilia; Cecere, Francesco; Giaccari, Carlo; Verma, Ankit; Russo, Rosita; Valletta, Mariangela; Hay Mele, Bruno; Angelini, Claudia; Chambery, Angela; Riccio, Andrea
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
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
Mostrati risultati da 101 a 120 di 125
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