IRIS

Sfoglia per Autore  

Opzioni
Mostrati risultati da 21 a 40 di 42
Titolo Data di pubblicazione Autore(i) File
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype 1-gen-2015 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
Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes 1-gen-2016 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
ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells 1-gen-2016 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 Vincenzo; Grimaldi, Giovanna; Riccio, Andrea
ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells 1-gen-2016 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
Beckwith-Wiedemann syndrome. Clinical and etiopathogenic aspects of a model genomic imprinting entity 1-gen-2018 Cammarata-Scalisi, Francisco; Avendaño, Andrea; Stock, Frances; Callea, Michele; Sparago, Angela; Riccio, Andrea
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice 1-gen-2018 Freschi, A; Hur, Sk; Valente, Fm; Ideraabdullah, Fy; Sparago, A; Gentile, Mt; Oneglia, A; Di Nucci, D; Colucci-D'Amato, L; Thorvaldsen, Jl; Bartolomei, Ms; Riccio, A; Cerrato, F.
Is ZFP57 binding to H19/IGF2: IG-DMR affected in Silver-Russell syndrome? 1-gen-2018 Sparago, Angela; Cerrato, Flavia; Riccio, Andrea
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus 1-gen-2019 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
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype 1-gen-2019 Sparago, A.; Verma, A.; Patricelli, M. G.; Pignata, L.; Russo, S.; Calzari, L.; De Francesco, N.; Del Prete, R.; Palumbo, O.; Carella, M.; Mackay, D. J. G.; Rezwan, F. I.; Angelini, C.; Cerrato, F.; Cubellis, M. V.; Riccio, A.
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation 1-gen-2019 Demond, H.; Anvar, Z.; Jahromi, B. N.; Sparago, A.; Verma, A.; Davari, M.; Calzari, L.; Russo, S.; Jahromi, M. A.; Monk, D.; Andrews, S.; Riccio, A.; Kelsey, G.
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.
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.
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.
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.
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.
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.
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
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
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 21 a 40 di 42
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile