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1
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
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Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Colombo, Elisa A ; Bazan, J Fernando ; Negri, Gloria ; Gervasini, Cristina ; Elcioglu, Nursel H ; Yucelten, Deniz ; Altunay, Ilknur ; Cetincelik, Umram ; Teti, Anna ; Del Fattore, Andrea ; Luciani, Matteo ; Sullivan, Spencer K ; Yan, Albert C ; Volpi, Ludovica ; Larizza, Lidia

Orphanet journal of rare diseases, 2012-01-23, Vol.7 (1), p.7-7 [Rivista Peer Reviewed]

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Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene ( CCMi002BMD-A-9 ∆45-55 )
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Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene ( CCMi002BMD-A-9 ∆45-55 )

Gowran, Aoife ; Spaltro, Gabriella ; Casalnuovo, Federica ; Vigorelli, Vera ; Spinelli, Pietro ; Castiglioni, Elisa ; Rovina, Davide ; Paganini, Stefania ; Di Segni, Marina ; Gervasini, Cristina ; Nigro, Patrizia ; Pompilio, Giulio

Stem cell research, 2018-04, Vol.28, p.21-24 [Rivista Peer Reviewed]

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iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability
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iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

Alari, Valentina ; Russo, Silvia ; Terragni, Benedetta ; Ajmone, Paola Francesca ; Sironi, Alessandra ; Catusi, Ilaria ; Calzari, Luciano ; Concolino, Daniela ; Marotta, Rosa ; Milani, Donatella ; Giardino, Daniela ; Mantegazza, Massimo ; Gervasini, Cristina ; Finelli, Palma ; Larizza, Lidia

Stem cell research, 2018-07, Vol.30, p.130-140 [Rivista Peer Reviewed]

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Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆ 49, ∆ 50)
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Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆ 49, ∆ 50)

Spaltro, Gabriella ; Vigorelli, Vera ; Casalnuovo, Federica ; Spinelli, Pietro ; Castiglioni, Elisa ; Rovina, Davide ; Paganini, Stefania ; Di Segni, Marina ; Nigro, Patrizia ; Gervasini, Cristina ; Pompilio, Giulio ; Gowran, Aoife

Stem cell research, 2017-12, Vol.25 (C), p.128-131 [Rivista Peer Reviewed]

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Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
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Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Gervasini, Cristina ; Picinelli, Chiara ; Azzollini, Jacopo ; Rusconi, Daniela ; Masciadri, Maura ; Cereda, Anna ; Marzocchi, Cinzia ; Zampino, Giuseppe ; Selicorni, Angelo ; Tenconi, Romano ; Russo, Silvia ; Larizza, Lidia ; Finelli, Palma

BMC medical genetics, 2013-04-03, Vol.14 (1), p.41-41 [Rivista Peer Reviewed]

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6
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Musio, Antonio ; Selicorni, Angelo ; Focarelli, Maria Luisa ; Gervasini, Cristina ; Milani, Donatella ; Russo, Silvia ; Vezzoni, Paolo ; Larizza, Lidia

Nature genetics, 2006-04-09, Vol.38 (5), p.528-530 [Rivista Peer Reviewed]

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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

Bentivegna, Angela ; Milani, Donatella ; Gervasini, Cristina ; Castronovo, Paola ; Mottadelli, Federica ; Manzini, Stefano ; Colapietro, Patrizia ; Giordano, Lucio ; Atzeri, Francesca ; Divizia, Maria T ; Uzielli, Maria L Giovannucci ; Neri, Giovanni ; Bedeschi, Maria F ; Faravelli, Francesca ; Selicorni, Angelo ; Larizza, Lidia

BMC medical genetics, 2006-10-19, Vol.7 (1), p.77-77 [Rivista Peer Reviewed]

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8
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
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Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

Calzari, Luciano ; Barcella, Matteo ; Alari, Valentina ; Braga, Daniele ; Muñoz-Viana, Rafael ; Barlassina, Cristina ; Finelli, Palma ; Gervasini, Cristina ; Barco, Angel ; Russo, Silvia ; Larizza, Lidia

Molecular neurobiology, 2020-09, Vol.57 (9), p.3685-3701 [Rivista Peer Reviewed]

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9
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Parenti, Ilaria ; Teresa-Rodrigo, María E ; Pozojevic, Jelena ; Ruiz Gil, Sara ; Bader, Ingrid ; Braunholz, Diana ; Bramswig, Nuria C ; Gervasini, Cristina ; Larizza, Lidia ; Pfeiffer, Lutz ; Ozkinay, Ferda ; Ramos, Feliciano ; Reiz, Benedikt ; Rittinger, Olaf ; Strom, Tim M ; Watrin, Erwan ; Wendt, Kerstin ; Wieczorek, Dagmar ; Wollnik, Bernd ; Baquero-Montoya, Carolina ; Pié, Juan ; Deardorff, Matthew A ; Gillessen-Kaesbach, Gabriele ; Kaiser, Frank J

Human genetics, 2017-03, Vol.136 (3), p.307-320 [Rivista Peer Reviewed]

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10
Chromatinopathies: A focus on Cornelia de Lange syndrome
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Chromatinopathies: A focus on Cornelia de Lange syndrome

Avagliano, Laura ; Parenti, Ilaria ; Grazioli, Paolo ; Di Fede, Elisabetta ; Parodi, Chiara ; Mariani, Milena ; Kaiser, Frank J ; Selicorni, Angelo ; Gervasini, Cristina ; Massa, Valentina

Clinical genetics, 2019-11-24, Vol.97 (1), p.3-11 [Rivista Peer Reviewed]

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