Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies by Elisabetta Di Fede, Paolo Grazioli, Antonella Lettieri, Chiara Parodi, Silvia Castiglioni, Esi Taci, Elisa Adele Colombo, Silvia Ancona, Alberto Priori, Alberto Priori, Cristina Gervasini, Cristina Gervasini, Valentina Massa, Valentina Massa

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Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies by Chiara Parodi, Elisabetta Di Fede, Angela Peron, Angela Peron, Angela Peron, Ilaria Viganò, Paolo Grazioli, Silvia Castiglioni, Richard H. Finnell, Cristina Gervasini, Cristina Gervasini, Aglaia Vignoli, Valentina Massa, Valentina Massa

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Unexpected phenotype in a frameshift mutation of PTCH1 by Benedetta Beltrami, Elisabetta Prada, Gianluca Tolva, Giulietta Scuvera, Rosamaria Silipigni, Daniela Graziani, Gaetano Bulfamante, Cristina Gervasini, Paola Marchisio, Donatella Milani

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LAM Cells as Potential Drivers of Senescence in Lymphangioleiomyomatosis Microenvironment by Clara Bernardelli, Silvia Ancona, Melania Lazzari, Antonella Lettieri, Piera Selvaggio, Valentina Massa, Cristina Gervasini, Fabiano Di Marco, Raffaella Chiaramonte, Elena Lesma

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Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51–53 of the dystrophin gene (CCMi003-A) by Davide Rovina, Elisa Castiglioni, Andrea Farini, Marzia Bellichi, Cristina Gervasini, Stefania Paganini, Marina Di Segni, Rosaria Santoro, Yvan Torrente, Giulio Pompilio, Aoife Gowran

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Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45–50 into an induced pluripotent stem cell line (CCMi005-A) by Davide Rovina, Elisa Castiglioni, Sara Mallia, Martina Rabino, Andrea Farini, Marzia Belicchi, Giusy Di Giuseppe, Cristina Gervasini, Yvan Torrente, Giulio Pompilio, Aoife Gowran

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Germline <i>NUP98</i> Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling by Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D’Ursi, Lidia Larizza

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

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

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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations by Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza

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Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)... by Valentina Alari, Silvia Russo, Davide Rovina, Aoife Gowran, Maria Garzo, Milena Crippa, Laura Mazzanti, Claudia Scalera, Ennio Prosperi, Daniela Giardino, Cristina Gervasini, Palma Finelli, Giulio Pompilio, Lidia Larizza

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Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C. by Davide Rovina, Elisa Castiglioni, Francesco Niro, Andrea Farini, Marzia Belicchi, Elisabetta Di Fede, Cristina Gervasini, Stefania Paganini, Marina Di Segni, Yvan Torrente, Rosaria Santoro, Giulio Pompilio, Aoife Gowran

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Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery by Sebastiano Aleo, Claudia Cinnante, Sabrina Avignone, Elisabetta Prada, Giulietta Scuvera, Paola Francesca Ajmone, Angelo Selicorni, Maria Antonella Costantino, Fabio Triulzi, Paola Marchisio, Paola Marchisio, Cristina Gervasini, Donatella Milani

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Cohesin Mutations Induce Chromatin Conformation Perturbation of the <i>H19</i>/<i>IGF2</i> Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lin... by Silvana Pileggi, Marta La Vecchia, Elisa Adele Colombo, Laura Fontana, Patrizia Colapietro, Davide Rovina, Annamaria Morotti, Silvia Tabano, Giovanni Porta, Myriam Alcalay, Cristina Gervasini, Monica Miozzo, Silvia Maria Sirchia

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<i>KMT2A</i>: Umbrella Gene for Multiple Diseases by Silvia Castiglioni, Elisabetta Di Fede, Clara Bernardelli, Antonella Lettieri, Chiara Parodi, Paolo Grazioli, Elisa Adele Colombo, Silvia Ancona, Donatella Milani, Emerenziana Ottaviano, Elisa Borghi, Valentina Massa, Filippo Ghelma, Aglaia Vignoli, Elena Lesma, Cristina Gervasini

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Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein–Taybi Syndrome by Elisabetta Di Fede, Emerenziana Ottaviano, Paolo Grazioli, Camilla Ceccarani, Antonio Galeone, Chiara Parodi, Elisa Adele Colombo, Giulia Bassanini, Grazia Fazio, Marco Severgnini, Donatella Milani, Elvira Verduci, Thomas Vaccari, Valentina Massa, Elisa Borghi, Cristina Gervasini

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Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome by Paolo Grazioli, Chiara Parodi, Milena Mariani, Daniele Bottai, Elisabetta Di Fede, Aida Zulueta, Laura Avagliano, Anna Cereda, Romano Tenconi, Jolanta Wierzba, Raffaella Adami, Maria Iascone, Paola Francesca Ajmone, Thomas Vaccari, Cristina Gervasini, Angelo Selicorni, Valentina Massa

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Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes by Milena Crippa, Milena Crippa, Maria Teresa Bonati, Luciano Calzari, Chiara Picinelli, Cristina Gervasini, Alessandra Sironi, Alessandra Sironi, Ilaria Bestetti, Ilaria Bestetti, Sara Guzzetti, Simonetta Bellone, Angelo Selicorni, Alessandro Mussa, Andrea Riccio, Andrea Riccio, Giovanni Battista Ferrero, Silvia Russo, Lidia Larizza, Palma Finelli, Palma Finelli

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P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity by Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred van Ijcken, Aglaia Vignoli, Gaetano Pietro Bulfamante, John Carey, Maria Paola Canevini

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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood by Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié

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