Resultados de búsqueda - Selicorni, Angelo

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum por Selicorni, Angelo, Mariani, Milena, Lettieri, Antonella, Massa, Valentina

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Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome por Avagliano, Laura, Grazioli, Paolo, Mariani, Milena, Bulfamante, Gaetano P., Selicorni, Angelo, Massa, Valentina

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The dark side of COVID‐19: The need of integrated medicine for children with special care needs por Leoni, Chiara, Giorgio, Valentina, Onesimo, Roberta, Tarani, Luigi, Celli, Mauro, Selicorni, Angelo, Zampino, Giuseppe

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Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome por Bonaglia, Maria Clara, Giorda, Roberto, Borgatti, Renato, Felisari, Giorgio, Gagliardi, Chiara, Selicorni, Angelo, Zuffardi, Orsetta

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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome por Crippa, Milena, Rusconi, Daniela, Castronovo, Chiara, Bestetti, Ilaria, Russo, Silvia, Cereda, Anna, Selicorni, Angelo, Larizza, Lidia, Finelli, Palma

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Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 por Zollino, Marcella, Lecce, Rosetta, Fischetto, Rita, Murdolo, Marina, Faravelli, Francesca, Selicorni, Angelo, Buttè, Cinzia, Memo, Luigi, Capovilla, Giuseppe, Neri, Giovanni

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Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review por Nacinovich, Renata, Villa, Nicoletta, Redaelli, Serena, Broggi, Fiorenza, Bomba, Monica, Stoppa, Patrizia, Scatigno, Agnese, Selicorni, Angelo, Dalprà, Leda, Neri, Francesca

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14q32.3-qter trisomic segment: a case report and literature review por Villa, Nicoletta, Scatigno, Agnese, Redaelli, Serena, Conconi, Donatella, Cianci, Paola, Farina, Clotilde, Fossati, Chiara, Dalprà, Leda, Maitz, Silvia, Selicorni, Angelo

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Health-Related Quality of Life and Home Enteral Nutrition in Children with Neurological Impairment: Report from a Multicenter Survey por Dipasquale, Valeria, Ventimiglia, Marco, Gramaglia, Simone Maria Calogero, Parma, Barbara, Funari, Caterina, Selicorni, Angelo, Armano, Chiara, Salvatore, Silvia, Romano, Claudio

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Caregiver Social Status and Health-Related Quality of Life in Neurologically Impaired Children on Home Enteral Nutrition por Dipasquale, Valeria, Ventimiglia, Marco, Gramaglia, Simone Maria Calogero, Parma, Barbara, Funari, Caterina, Selicorni, Angelo, Armano, Chiara, Salvatore, Silvia, Romano, Claudio

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Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls por 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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Refining the Phenotype of Recurrent Rearrangements of Chromosome 16 por Redaelli, Serena, Maitz, Silvia, Crosti, Francesca, Sala, Elena, Villa, Nicoletta, Spaccini, Luigina, Selicorni, Angelo, Rigoldi, Miriam, Conconi, Donatella, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela

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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis por 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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Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome por 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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Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life por Bettini, Laura Rachele, Graziola, Federica, Fazio, Grazia, Grazioli, Paolo, Scagliotti, Valeria, Pasquini, Mariavittoria, Cazzaniga, Giovanni, Biondi, Andrea, Larizza, Lidia, Selicorni, Angelo, Gaston-Massuet, Carles, Massa, Valentina

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Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery por 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 por 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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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes por Mackay, Deborah J.G., Bliek, Jet, Lombardi, Maria Paola, Russo, Silvia, Calzari, Luciano, Guzzetti, Sara, Izzi, Claudia, Selicorni, Angelo, Melis, Daniela, Temple, Karen, Maher, Eamonn, Brioude, Frédéric, Netchine, Irène, Eggermann, Thomas

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Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide... por Savarirayan, Ravi, Baratela, Wagner, Butt, Thomas, Cormier-Daire, Valérie, Irving, Melita, Miller, Bradley S., Mohnike, Klaus, Ozono, Keiichi, Rosenfeld, Ron, Selicorni, Angelo, Thompson, Dominic, White, Klane K., Wright, Michael, Fredwall, Svein O.

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Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases por Tannorella, Pierpaola, Minervino, Daniele, Guzzetti, Sara, Vimercati, Alessandro, Calzari, Luciano, Patti, Giuseppa, Maghnie, Mohamad, Allegri, Anna Elsa Maria, Milani, Donatella, Scuvera, Giulietta, Mariani, Milena, Modena, Piergiorgio, Selicorni, Angelo, Larizza, Lidia, Russo, Silvia

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