Search Results - "Cesarano, Carla"

A Novel IKCNN2/I Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis by d’Apolito, Maria, Ceccarini, Caterina, Savino, Rosa, Adipietro, Iolanda, di Bari, Ighli, Santacroce, Rosa, Curcetti, Maria, D’Andrea, Giovanna, Croce, Anna-Irma, Cesarano, Carla, Polito, Anna Nunzia, Margaglione, Maurizio

“…Background: Essential tremor (ET) is one of the more common movement disorders. Current diagnosis is solely based on clinical findings. ET appears to be…”
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A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis by d'Apolito, Maria, Ceccarini, Caterina, Savino, Rosa, Adipietro, Iolanda, di Bari, Ighli, Santacroce, Rosa, Curcetti, Maria, D'Andrea, Giovanna, Croce, Anna-Irma, Cesarano, Carla, Polito, Anna Nunzia, Margaglione, Maurizio

“…Essential tremor (ET) is one of the more common movement disorders. Current diagnosis is solely based on clinical findings. ET appears to be inherited in an…”
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Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner Syndrome by di Bari, Ighli, Ceccarini, Caterina, Curcetti, Maria, Cesarano, Carla, Croce, Anna-Irma, Adipietro, Iolanda, Gallicchio, Maria Grazia, Palladino, Grazia Pia, Patrizio, Maria Pia, Frisoli, Benedetta, Santacroce, Rosa, D'Apolito, Maria, D'Andrea, Giovanna, Castriota, Ombretta Michela, Pierri, Ciro Leonardo, Margaglione, Maurizio

“…Wiedemann-Steiner syndrome (WSS), a rare autosomal-dominant disorder caused by haploinsufficiency of the gene product, is part of a group of disorders called…”
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Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype by Tedesco, Maria Giovanna, Lonardo, Fortunato, Ceccarini, Caterina, Cesarano, Carla, Digilio, Maria Cristina, Magliozzi, Monia, Rogaia, Daniela, Mencarelli, Amedea, Leoni, Chiara, Piscopo, Carmelo, Imperatore, Valentina, Falco, Maria Teresa, Fontana, Paolo, Nardone, Anna Maria, Novelli, Antonio, Troiani, Stefania, Seri, Marco, Prontera, Paolo

“…Feingold Syndrome type 1 (FS1) is an autosomal dominant disorder due to a loss of function mutations in the MYCN gene. FS1 is generally clinically…”
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Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2) by Bukvic, Nenad, Cesarano, Carla, Ceccarini, Caterina, Bruno, Marianna, Lipsi, Maria Rosaria, Gallicchio, Maria Grazia, Carboni, Maria Assunta, Valente, Lucia, Cotoia, Giulia, Antonetti, Raffaele

“…Herein, we describe a case of an infertile man detected in postnatal diagnosis with FISH characterization and array-CGH used for genome-wide screening which…”
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Duplication of 9 p11.2-p13.1: a benign cytogenetic variant by Di Giacomo, Marilena C., Cesarano, Carla, Bukvic, Nenad, Manisali, Evangelia, Guanti, Ginevra, Susca, Francesco

“…The detection of very rare variants in prenatal diagnosis often causes counseling difficulties and anxiety in parents. We describe a duplication of the…”
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Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype by Tedesco, Maria Giovanna, Lonardo, tunato, Ceccarini, Caterina, Cesarano, Carla, Digilio, Maria Cristina, Magliozzi, Monia, Rogaia, Daniela, Mencarelli, Amedea, Leoni, Chiara, Piscopo, Carmelo, Imperatore, Valentina, Falco, Maria Teresa, Fontana, Paolo, Nardone, Anna Maria, Novelli, Antonio, Troiani, Stefania, Seri, Marco, Prontera, Paolo

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