檢索結果 - Selicorni, Angelo

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 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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Refining the Phenotype of Recurrent Rearrangements of Chromosome 16 由 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 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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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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Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life 由 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 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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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes 由 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... 由 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 由 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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