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1
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH
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Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

Di Gregorio, Eleonora ; Savin, Elisa ; Biamino, Elisa ; Belligni, Elga Fabia ; Naretto, Valeria Giorgia ; D′Alessandro, Gaetana ; Gai, Giorgia ; Fiocchi, Franco ; Calcia, Alessandro ; Mancini, Cecilia ; Giorgio, Elisa ; Cavalieri, Simona ; Talarico, Flavia ; Pappi, Patrizia ; Gandione, Marina ; Grosso, Monica ; Asnaghi, Valentina ; Restagno, Gabriella ; Mandrile, Giorgia ; Botta, Giovanni ; Silengo, Margherita Cirillo ; Grosso, Enrico ; Ferrero, Giovanni Battista ; Brusco, Alfredo

Molecular cytogenetics, 2014-11-19, Vol.7 (1), p.82-82 [Rivista Peer Reviewed]

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7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages
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7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

Adamo, Antonio ; Atashpaz, Sina ; Germain, Pierre-Luc ; Zanella, Matteo ; D'Agostino, Giuseppe ; Albertin, Veronica ; Chenoweth, Josh ; Micale, Lucia ; Fusco, Carmela ; Unger, Christian ; Augello, Bartolomeo ; Palumbo, Orazio ; Hamilton, Brad ; Carella, Massimo ; Donti, Emilio ; Pruneri, Giancarlo ; Selicorni, Angelo ; Biamino, Elisa ; Prontera, Paolo ; McKay, Ronald ; Merla, Giuseppe ; Testa, Giuseppe

Nature genetics, 2014-12-15, Vol.47 (2), p.132-141 [Rivista Peer Reviewed]

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Remittent hyperammonemia in congenital portosystemic shunt
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Remittent hyperammonemia in congenital portosystemic shunt

Ferrero, Giovanni Battista ; Ferrero, Giovanni Battista ; Porta, Francesco ; Porta, Francesco ; Biamino, Elisa ; Biamino, Elisa ; Mussa, Alessandro ; Mussa, Alessandro ; Garelli, Emanuela ; Garelli, Emanuela ; Chiappe, Francesca ; Chiappe, Francesca ; Veltri, Andrea ; Veltri, Andrea ; Silengo, Margherita Cirillo ; Silengo, Margherita Cirillo ; Gennari, Fabrizio ; Gennari, Fabrizio

European journal of pediatrics, 2010-03, Vol.169 (3), p.369-372 [Rivista Peer Reviewed]

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Early higher dosage of alglucosidase alpha in classic Pompe disease
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Early higher dosage of alglucosidase alpha in classic Pompe disease

Spada, Marco ; Pagliardini, Veronica ; Ricci, Federica ; Biamino, Elisa ; Mongini, Tiziana ; Porta, Francesco

Journal of pediatric endocrinology & metabolism : JPEM, 2018-12-19, Vol.31 (12), p.1343-1347 [Rivista Peer Reviewed]

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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Negri, Gloria ; Magini, Pamela ; Milani, Donatella ; Crippa, Milena ; Biamino, Elisa ; Piccione, Maria ; Sotgiu, Stefano ; Perrìa, Chiara ; Vitiello, Giuseppina ; Frontali, Marina ; Boni, Antonella ; Di Fede, Elisabetta ; Gandini, Maria Chiara ; Colombo, Elisa Adele ; Bamshad, Michael J ; Nickerson, Deborah A ; Smith, Joshua D ; Loddo, Italia ; Finelli, Palma ; Seri, Marco ; Pippucci, Tommaso ; Larizza, Lidia ; Gervasini, Cristina

Human genetics, 2019-02-26, Vol.138 (3), p.257-269 [Rivista Peer Reviewed]

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6
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
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Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

Micale, Lucia ; Augello, Bartolomeo ; Maffeo, Claudia ; Selicorni, Angelo ; Zucchetti, Federica ; Fusco, Carmela ; De Nittis, Pasquelena ; Pellico, Maria Teresa ; Mandriani, Barbara ; Fischetto, Rita ; Boccone, Loredana ; Silengo, Margherita ; Biamino, Elisa ; Perria, Chiara ; Sotgiu, Stefano ; Serra, Gigliola ; Lapi, Elisabetta ; Neri, Marcella ; Ferlini, Alessandra ; Cavaliere, Maria Luigia ; Chiurazzi, Pietro ; Monica, Matteo Della ; Scarano, Gioacchino ; Faravelli, Francesca ; Ferrari, Paola ; Mazzanti, Laura ; Pilotta, Alba ; Patricelli, Maria Grazia ; Bedeschi, Maria Francesca ; Benedicenti, Francesco ; Prontera, Paolo ; Toschi, Benedetta ; Salviati, Leonardo ; Melis, Daniela ; Di Battista, Eliana ; Vancini, Alessandra ; Garavelli, Livia ; Zelante, Leopoldo ; Merla, Giuseppe

Human mutation, 2014-07, Vol.35 (7), p.841-850 [Rivista Peer Reviewed]

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7
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity
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A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity

Biamino, Elisa ; Di Gregorio, Eleonora ; Belligni, Elga Fabia ; Keller, Roberto ; Riberi, Evelise ; Gandione, Marina ; Calcia, Alessandro ; Mancini, Cecilia ; Giorgio, Elisa ; Cavalieri, Simona ; Pappi, Patrizia ; Talarico, Flavia ; Fea, Antonio M ; De Rubeis, Silvia ; Cirillo Silengo, Margherita ; Ferrero, Giovanni Battista ; Brusco, Alfredo

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2016-03, Vol.171 (2), p.290-299 [Rivista Peer Reviewed]

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8
Playing competitive basketball in face of late‐onset pompe disease
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Playing competitive basketball in face of late‐onset pompe disease

Porta, Francesco ; Pagliardini, Veronica ; Roasio, Luca ; Biamino, Elisa ; Spada, Marco

Muscle & nerve, 2015-02, Vol.51 (2), p.302-303 [Rivista Peer Reviewed]

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9
A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome
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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Caputo, Viviana ; Cianetti, Luciano ; Niceta, Marcello ; Carta, Claudio ; Ciolfi, Andrea ; Bocchinfuso, Gianfranco ; Carrani, Eugenio ; Dentici, Maria Lisa ; Biamino, Elisa ; Belligni, Elga ; Garavelli, Livia ; Boccone, Loredana ; Melis, Daniela ; Andria, Generoso ; Gelb, Bruce D ; Stella, Lorenzo ; Silengo, Margherita ; Dallapiccola, Bruno ; Tartaglia, Marco

American journal of human genetics, 2012-01, Vol.90 (1), p.161-169 [Rivista Peer Reviewed]

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10
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Rusconi, Daniela ; Negri, Gloria ; Colapietro, Patrizia ; Picinelli, Chiara ; Milani, Donatella ; Spena, Silvia ; Magnani, Cinzia ; Silengo, Margherita Cirillo ; Sorasio, Lorena ; Curtisova, Vaclava ; Cavaliere, Maria Luigia ; Prontera, Paolo ; Stangoni, Gabriela ; Ferrero, Giovanni Battista ; Biamino, Elisa ; Fischetto, Rita ; Piccione, Maria ; Gasparini, Paolo ; Salviati, Leonardo ; Selicorni, Angelo ; Finelli, Palma ; Larizza, Lidia ; Gervasini, Cristina

Human genetics, 2015-03-25, Vol.134 (6), p.613-626 [Rivista Peer Reviewed]

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