Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?

Autor Sparago, Angela, Cerrato, Flavia, Riccio, Andrea
Vydáno v Clin Epigenetics (2018)

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome

Autor Nativio, Raffaella, Sparago, Angela, Ito, Yoko, Weksberg, Rosanna, Riccio, Andrea, Murrell, Adele
Vydáno 2011

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C

Autor Sparago, Angela, Cerrato, Flavia, Pignata, Laura, Cammarata-Scalisi, Francisco, Garavelli, Livia, Piscopo, Carmelo, Vancini, Alessandra, Riccio, Andrea
Vydáno v Genes (Basel) (2021)

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome

Autor Pignata, Laura, Sparago, Angela, Palumbo, Orazio, Andreucci, Elena, Lapi, Elisabetta, Tenconi, Romano, Carella, Massimo, Riccio, Andrea, Cerrato, Flavia
Vydáno v Genes (Basel) (2021)

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restricti...

Autor De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Miceli, Marco, Bronshtein, Moshe, Riccio, Andrea, Yaron, Yuval
Vydáno 2013

Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop

Autor Iglesias-Platas, Isabel, Court, Franck, Camprubi, Cristina, Sparago, Angela, Guillaumet-Adkins, Amy, Martin-Trujillo, Alex, Riccio, Andrea, Moore, Gudrun E., Monk, David
Vydáno 2013

Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1

Autor Baglivo, Ilaria, Esposito, Sabrina, De Cesare, Lucia, Sparago, Angela, Anvar, Zahra, Riso, Vincenzo, Cammisa, Marco, Fattorusso, Roberto, Grimaldi, Giovanna, Riccio, Andrea, Pedone, Paolo V.
Vydáno 2013

Distinct Methylation Changes at the IGF2-H19 Locus in Congenital Growth Disorders and Cancer

Autor 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
Vydáno 2008

The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus

Autor Court, Franck, Camprubi, Cristina, Garcia, Cristina Vicente, Guillaumet-Adkins, Amy, Sparago, Angela, Seruggia, Davide, Sandoval, Juan, Esteller, Manel, Martin-Trujillo, Alex, Riccio, Andrea, Montoliu, Lluis, Monk, David
Vydáno 2014

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Autor Boonen, Susanne Eriksen, Freschi, Andrea, Christensen, Rikke, Valente, Federica Maria, Lildballe, Dorte Launholt, Perone, Lucia, Palumbo, Orazio, Carella, Massimo, Uldbjerg, Niels, Sparago, Angela, Riccio, Andrea, Cerrato, Flavia
Vydáno v Clin Epigenetics (2016)

A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

Autor Demond, Hannah, Anvar, Zahra, Jahromi, Bahia Namavar, Sparago, Angela, Verma, Ankit, Davari, Maryam, Calzari, Luciano, Russo, Silvia, Jahromi, Mojgan Akbarzadeh, Monk, David, Andrews, Simon, Riccio, Andrea, Kelsey, Gavin
Vydáno v Genome Med (2019)

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Autor Cubellis, Maria Vittoria, Pignata, Laura, Verma, Ankit, Sparago, Angela, Del Prete, Rosita, Monticelli, Maria, Calzari, Luciano, Antona, Vincenzo, Melis, Daniela, Tenconi, Romano, Russo, Silvia, Cerrato, Flavia, Riccio, Andrea
Vydáno v Clin Epigenetics (2020)

ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells

Autor Anvar, Zahra, Cammisa, Marco, Riso, Vincenzo, Baglivo, Ilaria, Kukreja, Harpreet, Sparago, Angela, Girardot, Michael, Lad, Shraddha, De Feis, Italia, Cerrato, Flavia, Angelini, Claudia, Feil, Robert, Pedone, Paolo V., Grimaldi, Giovanna, Riccio, Andrea
Vydáno v Nucleic Acids Res (2016)

ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells

Autor Riso, Vincenzo, Cammisa, Marco, Kukreja, Harpreet, Anvar, Zahra, Verde, Gaetano, Sparago, Angela, Acurzio, Basilia, Lad, Shraddha, Lonardo, Enza, Sankar, Aditya, Helin, Kristian, Feil, Robert, Fico, Annalisa, Angelini, Claudia, Grimaldi, Giovanna, Riccio, Andrea
Vydáno v Nucleic Acids Res (2016)

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice

Autor 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
Vydáno v PLoS Genet (2018)

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

Autor Chiesa, Nicoletta, De Crescenzo, Agostina, Mishra, Kankadeb, Perone, Lucia, Carella, Massimo, Palumbo, Orazio, Mussa, Alessandro, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Lapi, Elisabetta, Cubellis, Maria Vittoria, Kanduri, Chandrasekhar, Cirillo Silengo, Margherita, Riccio, Andrea, Ferrero, Giovanni Battista
Vydáno 2012

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

Autor 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
Vydáno 2013

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenot...

Autor Sparago, Angela, Verma, Ankit, Patricelli, Maria Grazia, Pignata, Laura, Russo, Silvia, Calzari, Luciano, De Francesco, Naomi, Del Prete, Rosita, Palumbo, Orazio, Carella, Massimo, Mackay, Deborah J. G., Rezwan, Faisal I., Angelini, Claudia, Cerrato, Flavia, Cubellis, Maria Vittoria, Riccio, Andrea
Vydáno v Clin Epigenetics (2019)

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

Autor 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
Vydáno v Genet Med (2019)

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Autor Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M, De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela, Fischetto, Rita, Lalatta, Faustina, Giordano, Lucio, Ferrari, Paola, Cubellis, Maria Vittoria, Larizza, Lidia, Temple, I Karen, Mannens, Marcel M A M, Mackay, Deborah J G, Riccio, Andrea
Vydáno 2009