Suchergebnisse - Selicorni, Angelo

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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... von 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 von 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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