Browsing by Author Sparago, Angela

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Issue DateTitleAuthor(s)
17-Dec-2019A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisationDemond, 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
7-Jan-2013Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loopIglesias Platas, Isabel; Court, Franck; Camprubí Sánchez, Cristina; Sparago, Angela; Guillaumet Adkins, Amy; Martín Trujillo, Alex; Riccio, Andrea; Moore, Gudrun E.; Monk, Dave Nicholas
28-May-2022Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbancesPignata, 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; Perez de Nanclares, Guiomar; Monk, David; Riccio, Andrea; Cerrato, Flavia
25-Mar-2014The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locusCourt, Franck; Camprubí Sánchez, Cristina; Vicente García, Cristina; Guillaumet Adkins, Amy; Sparago, Angela; Seruggia, Davide; Sandoval, Juan; Esteller, Manel; Martín Trujillo, Alex; Riccio, Andrea; Montoliu, Lluis; Monk, Dave Nicholas