檢索結果 - Silvia Russo
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Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour 由 Angela Sparago, Silvia Russo, Flavia Cerrato, Serena Ferraiuolo, Pierangela Castorina, Angelo Selicorni, Christine Schwienbacher, Massimo Negrini, Giovanni Battista Ferrero, Margherita Silengo, Cecilia Anichini, Lidia Larizza, Andrea Riccio
出版 2006Artigo -
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Genistein Aglycone Does Not Affect Thyroid Function: Results from a Three-Year, Randomized, Double-Blind, Placebo-Controlled Trial 由 Alessandra Bitto, Francesca Polito, Marco Atteritano, Domenica Altavilla, Susanna Mazzaferro, Herbert Marini, Elena Bianca Adamo, Rosario D’Anna, Roberta Granese, Francesco Corrado, Silvia Russo, Letteria Minutoli, Francesco Squadrito
出版 2010Artigo -
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A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation 由 Hannah Demond, Zahra Anvar, Bahia Namavar Jahromi, Angela Sparago, Ankit Verma, Maryam Davari, Luciano Calzari, Silvia Russo, Mojgan Akbarzadeh‐Jahromi, David Monk, Simon Andrews, Andrea Riccio, Gavin Kelsey
出版 2019Artigo -
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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 由 Maria Vittoria Cubellis, Laura Pignata, Ankit Verma, Angela Sparago, Rosita Del Prete, Maria Monticelli, Luciano Calzari, Vincenzo Antona, Daniela Melis, Romano Tenconi, Silvia Russo, Flavia Cerrato, Andrea Riccio
出版 2020Artigo -
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Epilepsy in Rett syndrome: Clinical and genetic features 由 Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli, Elena Biggi Parodi, Francesca Aiello, M. G. Baglietto, Joussef Hayek, Sabrina Buoni, Alessandra Renieri, Silvia Russo, Francesca Cogliati, Lucio Giordano, Maria Paola Canevini, Edvige Veneselli
出版 2010Artigo -
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Human Ovarian Cancer Tissue Exhibits Increase of Mitochondrial Biogenesis and Cristae Remodeling 由 Anna Signorile, Domenico De Rasmo, Antonella Cormio, Clara Musicco, Roberta Rossi, Francesco Fortarezza, Luigi Leonardo Palese, Vera Loizzi, Leonardo Resta, Giovanni Scillitani, Ettore Cicinelli, Francesca Simonetti, Anna Ferretta, Silvia Russo, Antonio Tufaro, Gennaro Cormio
出版 2019Artigo -
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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 由 Nicoletta Chiesa, Agostina De Crescenzo, Kankadeb Mishra, Lucia Perone, Massimo Carella, Orazio Palumbo, Alessandro Mussa, Angela Sparago, Flavia Cerrato, Silvia Russo, Elisabetta Lapi, Maria Vittoria Cubellis, Chandrasekhar Kanduri, Margherita Silengo, Andrea Riccio, Giovanni Battista Ferrero
出版 2011Artigo -
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Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype 由 Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic, Luitgard Graul‐Neumann, Jacopo Azzollini, D. Braunholz, Erwan Watrin, Kerstin S. Wendt, Anna Cereda, Davide Cittaro, Gabriele Gillessen‐Kaesbach, Dejan Lazarević, Milena Mariani, Silvia Russo, Ralf Werner, Peter Krawitz, Lidia Larizza, Angelo Selicorni, Frank J. Kaiser
出版 2015Artigo -
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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences 由 Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, Pierpaola Tannorella, Luciano Calzari, Guiomar Pérez de Nanclares, Paola Lombardi, I. Karen Temple, Deborah Mackay, Andrea Riccio, Masayo Kagami, Tsutomu Ogata, Pablo Lapunzina, David Monk, Eamonn R. Maher, Zeynep Tümer
出版 2022Artigo -
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Genistein in the Metabolic Syndrome: Results of a Randomized Clinical Trial 由 Francesco Squadrito, Herbert Marini, Alessandra Bitto, Domenica Altavilla, Francesca Polito, Elena Bianca Adamo, Rosario D’Anna, Vincenzo Arcoraci, Bruce Burnett, Letteria Minutoli, A. Di Benedetto, Giacoma Di Vieste, Domenico Cucinotta, Cesare de Gregorio, Silvia Russo, Francesco Corrado, Antonino Saitta, Concetta Irace, Salvatore Corrao, Giuseppe Licata
出版 2013Artigo -
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(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome 由 Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Silengo, Lidia Larizza, Andrea Riccio, Giovanni Battista Ferrero
出版 2015Artigo -
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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome 由 Jet Bliek, Gaetano Verde, Jonathan L A Callaway, Saskia M. Maas, Agostina De Crescenzo, Angela Sparago, Flavia Cerrato, Silvia Russo, Serena Ferraiuolo, Maria Michela Rinaldi, Rita Fischetto, Faustina Lalatta, Lucio Giordano, Paola Ferrari, Maria Vittoria Cubellis, Lidia Larizza, I. Karen Temple, Marcel M.A.M. Mannens, Deborah Mackay, Andrea Riccio
出版 2008Artigo -
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A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 由 Silvia Russo, Luciano Calzari, Alessandro Mussa, Ester Mainini, Matteo Cassina, Stefania Di Candia, Maurizio Clementi, Sara Guzzetti, Silvia Tabano, Monica Miozzo, Silvia Maria Sirchia, Palma Finelli, Paolo Prontera, Silvia Maitz, Giovanni Sorge, Annalisa Calcagno, Mohamad Maghnie, Maria Teresa Divizia, Daniela Melis, Emanuela Manfredini, Giovanni Battista Ferrero, Vanna Pecile, Lidia Larizza
出版 2016Artigo -
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DNA Methylation in the Diagnosis of Monogenic Diseases 由 Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri, Cristiana Lo Nigro, Giuseppe Merla, Monica Miozzo, Silvia Russo, Eugenio Sangiorgi, Silvia Maria Sirchia, Gabriella Maria Squeo, Silvia Tabano, Elisabetta Tabolacci, Isabella Torrente, Maurizio Genuardi, Giovanni Neri, Andrea Riccio
出版 2020Revisão -
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Nomenclature and definition in asymmetric regional body overgrowth 由 Jennifer M. Kalish, Leslie G. Biesecker, Frédéric Brioude, Matthew A. Deardorff, Alessandra Di Cesare‐Merlone, Todd E. Druley, Giovanni Battista Ferrero, Pablo Lapunzina, Lidia Larizza, Saskia M. Maas, Marina Macchiaiolo, Eamonn R. Maher, Silvia Maitz, Julian A. Martínez‐Agosto, Alessandro Mussa, Peter N. Robinson, Silvia Russo, Angelo Selicorni, Raoul C. M. Hennekam
出版 2017Artigo
相關主題
Biology
Genetics
Gene
Medicine
DNA methylation
Gene expression
Internal medicine
Beckwith–Wiedemann syndrome
Genomic imprinting
Imprinting (psychology)
Phenotype
Methylation
Pathology
Pediatrics
Rett syndrome
Epigenetics
Epilepsy
Human genetics
Locus (genetics)
Psychology
Bioinformatics
Cell biology
Computational biology
Endocrinology
Law
MECP2
Mutation
Political science
Pregnancy
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