Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome
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Published in Pediatrics (Evanston) (01.07.2017)
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Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs
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Published in Scientific reports (05.07.2021)
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Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus
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Published in Genetics in medicine (01.08.2019)
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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
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Published in Human molecular genetics (01.01.2012)
Published in Human molecular genetics (01.01.2012)
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The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
Beygo, Jasmin, Citro, Valentina, Sparago, Angela, De Crescenzo, Agostina, Cerrato, Flavia, Heitmann, Melanie, Rademacher, Katrin, Guala, Andrea, Enklaar, Thorsten, Anichini, Cecilia, Cirillo Silengo, Margherita, Graf, Notker, Prawitt, Dirk, Cubellis, Maria Vittoria, Horsthemke, Bernhard, Buiting, Karin, Riccio, Andrea
Published in Human molecular genetics (01.02.2013)
Published in Human molecular genetics (01.02.2013)
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Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature
Elefante, Pierandrea, Spedicati, Beatrice, Faletra, Flavio, Pignata, Laura, Cerrato, Flavia, Riccio, Andrea, Barbi, Egidio, Memo, Luigi, Travan, Laura
Published in Italian journal of pediatrics (25.09.2023)
Published in Italian journal of pediatrics (25.09.2023)
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Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer
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Published in Cancers (23.03.2023)
Published in Cancers (23.03.2023)
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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
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Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
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Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum
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
Published in Genes (16.10.2022)
Published in Genes (16.10.2022)
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Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome
Pignata, Laura, Sparago, Angela, Palumbo, Orazio, Andreucci, Elena, Lapi, Elisabetta, Tenconi, Romano, Carella, Massimo, Riccio, Andrea, Cerrato, Flavia
Published in Genes (16.04.2021)
Published in Genes (16.04.2021)
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Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice
Freschi, Andrea, Hur, Stella K, Valente, Federica Maria, Ideraabdullah, Folami Y, Sparago, Angela, Gentile, Maria Teresa, Oneglia, Andrea, Di Nucci, Diego, Colucci-D'Amato, Luca, Thorvaldsen, Joanne L, Bartolomei, Marisa S, Riccio, Andrea, Cerrato, Flavia
Published in PLoS genetics (22.02.2018)
Published in PLoS genetics (22.02.2018)
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DNA Methylation in the Diagnosis of Monogenic Diseases
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Published in Genes (26.03.2020)
Published in Genes (26.03.2020)
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Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C
Sparago, Angela, Cerrato, Flavia, Pignata, Laura, Cammarata-Scalisi, Francisco, Garavelli, Livia, Piscopo, Carmelo, Vancini, Alessandra, Riccio, Andrea
Published in Genes (01.05.2021)
Published in Genes (01.05.2021)
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A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype
De Crescenzo, Agostina, Citro, Valentina, Freschi, Andrea, Sparago, Angela, Palumbo, Orazio, Cubellis, Maria Vittoria, Carella, Massimo, Castelluccio, Pia, Cavaliere, Maria Luigia, Cerrato, Flavia, Riccio, Andrea
Published in Journal of human genetics (01.06.2015)
Published in Journal of human genetics (01.06.2015)
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Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors
Pignata, Laura, Palumbo, Orazio, Cerrato, Flavia, Acurzio, Basilia, de Álava, Enrique, Roma, Josep, Gallego, Soledad, Mora, Jaume, Carella, Massimo, Riccio, Andrea, Verde, Gaetano
Published in Cancers (01.11.2020)
Published in Cancers (01.11.2020)
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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Mackay, Deborah J G, Gazdagh, Gabriella, Monk, David, Brioude, Frederic, Giabicani, Eloise, Krzyzewska, Izabela M, Kalish, Jennifer M, Maas, Saskia M, Kagami, Masayo, Beygo, Jasmin, Kahre, Tiina, Tenorio-Castano, Jair, Ambrozaitytė, Laima, Burnytė, Birutė, Cerrato, Flavia, Davies, Justin H, Ferrero, Giovanni Battista, Fjodorova, Olga, Manero-Azua, Africa, Pereda, Arrate, Russo, Silvia, Tannorella, Pierpaola, Temple, Karen I, Õunap, Katrin, Riccio, Andrea, de Nanclares, Guiomar Perez, Maher, Eamonn R, Lapunzina, Pablo, Netchine, Irène, Eggermann, Thomas, Bliek, Jet, Tümer, Zeynep
Published in Clinical epigenetics (01.08.2024)
Published in Clinical epigenetics (01.08.2024)
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Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
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
Published in Frontiers in cell and developmental biology (10.08.2023)
Published in Frontiers in cell and developmental biology (10.08.2023)
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Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer
Murrell, Adele, Ito, Yoko, Verde, Gaetano, Huddleston, Joanna, Woodfine, Kathryn, Silengo, Margherita Cirillo, Spreafico, Filippo, Perotti, Daniela, De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Riccio, Andrea
Published in PloS one (26.03.2008)
Published in PloS one (26.03.2008)
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