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1
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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2
Donor splice‐site mutation in CUL4B is likely cause of X‐linked intellectual disability
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Donor splice‐site mutation in CUL4B is likely cause of X‐linked intellectual disability

Londin, Eric R ; Adijanto, Jeffrey ; Philp, Nancy ; Novelli, Antonio ; Vitale, Emilia ; Perria, Chiara ; Serra, Gigliola ; Alesi, Viola ; Surrey, Saul ; Fortina, Paolo

American journal of medical genetics. Part A, 2014-09, Vol.164 (9), p.2294-2299 [Rivista Peer Reviewed]

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3
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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4
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
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Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

Angius, Andrea ; Uva, Paolo ; Oppo, Manuela ; Persico, Ivana ; Onano, Stefano ; Olla, Stefania ; Pes, Valentina ; Perria, Chiara ; Cuccuru, Gianmauro ; Atzeni, Rossano ; Serra, Gigliola ; Cucca, Francesco ; Sotgiu, Stefano ; Hennekam, Raoul C ; Crisponi, Laura

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.634-638 [Rivista Peer Reviewed]

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5
Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes
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Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes

Sinibaldi, Lorenzo ; Parisi, Valentina ; Lanciotti, Silvia ; Fontana, Paolo ; Kuechler, Alma ; Baujat, Genevieve ; Torres, Barbara ; Koetting, Judith ; Splendiani, Alessandra ; Postorivo, Diana ; Beygo, Jasmin ; Garaci, Francesco G ; Malan, Valerie ; Lüdecke, Hermann‐Josef ; Guida, Valentina ; Krumbiegel, Mandy ; Lonardo, Fortunato ; Novelli, Antonio ; Albrecht, Beate ; Perria, Chiara ; Scarano, Gioacchino ; Spielmann, Malte ; Nardone, Annamaria M ; Battaglia, Agatino ; Brancati, Francesco ; Bernardini, Laura

Clinical genetics, 2019-06-17, Vol.96 (3), p.246-253 [Rivista Peer Reviewed]

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6
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients
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Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients

Sechi, Annalisa ; Deroma, Laura ; Dardis, Andrea ; Ciana, Giovanni ; Bertin, Nicole ; Concolino, Daniela ; Linari, Silvia ; Perria, Chiara ; Bembi, Bruno

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.213-218 [Rivista Peer Reviewed]

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7
335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features
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335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features

Alesi, Viola ; Bertoli, Marta ; Barrano, Giuseppe ; Torres, Barbara ; Pusceddu, Silvia ; Pastorino, Myriam ; Perria, Chiara ; Nardone, Anna Maria ; Novelli, Antonio ; Serra, Gigliola

Gene, 2012-09-01, Vol.505 (2), p.384-387 [Rivista Peer Reviewed]

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8
335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features
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335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features

Alesi, Viola ; Bertoli, Marta ; Barrano, Giuseppe ; Torres, Barbara ; Pusceddu, Silvia ; Pastorino, Myriam ; Perria, Chiara ; Nardone, Anna Maria ; Novelli, Antonio ; Serra, Gigliola

Gene, 2012-09, Vol.505 (2), p.384-387 [Rivista Peer Reviewed]

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9
Donor splice-site mutation inCUL4Bis likely cause of X-linked intellectual disability
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Donor splice-site mutation inCUL4Bis likely cause of X-linked intellectual disability

Londin, Eric R ; Adijanto, Jeffrey ; Philp, Nancy ; Novelli, Antonio ; Vitale, Emilia ; Perria, Chiara ; Serra, Gigliola ; Alesi, Viola ; Surrey, Saul ; Fortina, Paolo

American journal of medical genetics. Part A, 2014-09, Vol.164 (9), p.2294-2299 [Rivista Peer Reviewed]

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10
A UHPLC–MS/MS method for the quantification of direct antiviral agents simeprevir, daclatasvir, ledipasvir, sofosbuvir/GS-331007, dasabuvir, ombitasvir and paritaprevir, together with ritonavir, in human plasma
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A UHPLC–MS/MS method for the quantification of direct antiviral agents simeprevir, daclatasvir, ledipasvir, sofosbuvir/GS-331007, dasabuvir, ombitasvir and paritaprevir, together with ritonavir, in human plasma

Ariaudo, Alessandra ; Favata, Fabio ; De Nicolò, Amedeo ; Simiele, Marco ; Paglietti, Luca ; Boglione, Lucio ; Cardellino, Chiara Simona ; Carcieri, Chiara ; Di Perri, Giovanni ; D’Avolio, Antonio

Journal of pharmaceutical and biomedical analysis, 2016-06, Vol.125, p.369-375 [Rivista Peer Reviewed]

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