检索结果 - Gervasini, Cristina

Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome 由 Spena, Silvia, Gervasini, Cristina, Milani, Donatella

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Editorial: Impact on Embryonic Development of Chromatin Remodeling Alterations 由 Gervasini, Cristina, Garcia-Dominguez, Mario, Massa, Valentina

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SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 由 Di Fede, Elisabetta, Peron, Angela, Colombo, Elisa Adele, Gervasini, Cristina, Vignoli, Aglaia

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Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer pred... 由 Roversi, Gaia, Colombo, Elisa Adele, Magnani, Ivana, Gervasini, Cristina, Maggiore, Giuseppe, Paradisi, Mauro, Larizza, Lidia

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Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer pred... 由 Roversi, Gaia, Colombo, Elisa Adele, Magnani, Ivana, Gervasini, Cristina, Maggiore, Giuseppe, Paradisi, Mauro, Larizza, Lidia

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Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management 由 Milani, Donatella, Manzoni, Francesca Maria Paola, Pezzani, Lidia, Ajmone, Paola, Gervasini, Cristina, Menni, Francesca, Esposito, Susanna

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Semaphorin Regulation by the Chromatin Remodeler CHD7: An Emerging Genetic Interaction Shaping Neural Cells and Neural Crest in Development and Cancer 由 Lettieri, Antonella, Oleari, Roberto, Paganoni, Alyssa J. J., Gervasini, Cristina, Massa, Valentina, Fantin, Alessandro, Cariboni, Anna

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Saliva detection of SARS-CoV-2 for mitigating company outbreaks: a surveillance experience, Milan, Italy, March 2021 由 Ottaviano, Emerenziana, Parodi, Chiara, Borghi, Elisa, Massa, Valentina, Gervasini, Cristina, Centanni, Stefano, Zuccotti, Gianvincenzo, Bianchi, Silvia

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

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Functional analysis of splicing mutations in exon 7 of NF1 gene 由 Bottillo, Irene, De Luca, Alessandro, Schirinzi, Annalisa, Guida, Valentina, Torrente, Isabella, Calvieri, Stefano, Gervasini, Cristina, Larizza, Lidia, Pizzuti, Antonio, Dallapiccola, Bruno

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

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

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Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation 由 Calzari, Luciano, Barcella, Matteo, Alari, Valentina, Braga, Daniele, Muñoz-Viana, Rafael, Barlassina, Cristina, Finelli, Palma, Gervasini, Cristina, Barco, Angel, Russo, Silvia, Larizza, Lidia

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Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls 由 Parenti, Ilaria, Rovina, Davide, Masciadri, Maura, Cereda, Anna, Azzollini, Jacopo, Picinelli, Chiara, Limongelli, Giuseppe, Finelli, Palma, Selicorni, Angelo, Russo, Silvia, Gervasini, Cristina, Larizza, Lidia

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Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations 由 Colombo, Elisa Adele, Spaccini, Luigina, Volpi, Ludovica, Negri, Gloria, Cittaro, Davide, Lazarevic, Dejan, Zirpoli, Salvatore, Farolfi, Andrea, Gervasini, Cristina, Cubellis, Maria Vittoria, Larizza, Lidia

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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis 由 Gervasini, Cristina, Mottadelli, Federica, Ciccone, Roberto, Castronovo, Paola, Milani, Donatella, Scarano, Gioacchino, Bedeschi, Maria Francesca, Belli, Serena, Pilotta, Alba, Selicorni, Angelo, Zuffardi, Orsetta, Larizza, Lidia

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

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

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

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Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients 由 Russo, Silvia, Masciadri, Maura, Gervasini, Cristina, Azzollini, Jacopo, Cereda, Anna, Zampino, Giuseppe, Haas, Oskar, Scarano, Gioacchino, Di Rocco, Maja, Finelli, Palma, Tenconi, Romano, Selicorni, Angelo, Larizza, Lidia

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