Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i> by Angela Sparago, Flavia Cerrato, Laura Pignata, Francisco Cammarata-Scalisi, Livia Garavelli, Carmelo Piscopo, Alessandra Vancini, Andrea Riccio

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Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome by Laura Pignata, Angela Sparago, Orazio Palumbo, Elena Andreucci, Elisabetta Lapi, Romano Tenconi, Massimo Carella, Andrea Riccio, Flavia Cerrato

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Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature by Pierandrea Elefante, Beatrice Spedicati, Flavio Faletra, Laura Pignata, Flavia Cerrato, Andrea Riccio, Egidio Barbi, Luigi Memo, Laura Travan

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Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors by Laura Pignata, Orazio Palumbo, Flavia Cerrato, Basilia Acurzio, Enrique de Álava, Josep Roma, Soledad Gallego, Jaume Mora, Massimo Carella, Andrea Riccio, Gaetano Verde

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Different Mechanisms Cause Hypomethylation of Both <i>H19</i> and <i>KCNQ1OT1</i> Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum by Francesco Passaretti, Laura Pignata, Giuseppina Vitiello, Viola Alesi, Gemma D’Elia, Francesco Cecere, Fabio Acquaviva, Daniele De Brasi, Antonio Novelli, Andrea Riccio, Achille Iolascon, Flavia Cerrato

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Epigenetic Alterations in Inborn Errors of Immunity by Roberta Romano, Francesca Cillo, Cristina Moracas, Laura Pignata, Chiara Nannola, Elisabetta Toriello, Antonio De Rosa, Emilia Cirillo, Emma Coppola, Giuliana Giardino, Nicola Brunetti-Pierri, Andrea Riccio, Claudio Pignata

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Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism? by Laura Pignata, Francesco Cecere, Fabio Acquaviva, Emilia D’Angelo, Daniela Cioffi, Valeria Pellino, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Angela Sparago, Daniele De Brasi, Flavia Cerrato, Andrea Riccio, Andrea Riccio

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Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer by Francesco Cecere, Laura Pignata, Bruno Hay Mele, Abu Saadat, Emilia D’Angelo, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Gioacchino Scarano, Giovanni Battista Rossi, Claudia Angelini, Angela Sparago, Flavia Cerrato, Andrea Riccio

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Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors by Francesca Cillo, Emma Coppola, Federico Habetswallner, Francesco Cecere, Laura Pignata, Elisabetta Toriello, Antonio De Rosa, Laura Grilli, Antonio Ammendola, Paolo Salerno, Roberta Romano, Emilia Cirillo, Giuseppe Merla, Andrea Riccio, Claudio Pignata, Giuliana Giardino

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Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development by Maria Luca, Diana Carli, Simona Cardaropoli, Donatella Milani, Guido Cocchi, Chiara Leoni, Marina Macchiaiolo, Andrea Bartuli, Luigi Tarani, Daniela Melis, Piera Bontempo, Gemma D’Elia, Elisabetta Prada, Raffaele Vitale, Angelina Grammegna, Pierpaola Tannorella, Angela Sparago, Laura Pignata, Andrea Riccio, Silvia Russo, Giovanni Battista Ferrero, Alessandro Mussa

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Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. by Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outi Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand

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