Search Results - "TORNIERO, Claudia"

Electroclinical findings in four patients with karyotype 47,XYY by Torniero, Claudia, Bernardina, Bernardo Dalla, Fontana, Elena, Darra, Francesca, Danesino, Cesare, Elia, Maurizio

“…Abstract 47,XYY karyotype is a Y chromosome aneuploidy characterized by an extra copy of the Y chromosome in each of the male cells, with an incidence of…”
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures by Eichler, Evan E, Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha J L, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E

“…We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected…”
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Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical report of six Italian cases by Figura, Maria Grazia, Coppola, Antonietta, Bottitta, Maria, Calabrese, Giuseppe, Grillo, Lucia, Luciano, Daniela, Del Gaudio, Luigi, Torniero, Claudia, Striano, Salvatore, Elia, Maurizio

“…Highlights • This study confirms the presence of epilepsy in the 22q13.3 deletion syndrome. • 22q13.3 deletion syndrome is associated with a benign childhood…”
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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females by Giorda, Roberto, Bonaglia, M. Clara, Beri, Silvana, Fichera, Marco, Novara, Francesca, Magini, Pamela, Urquhart, Jill, Sharkey, Freddie H., Zucca, Claudio, Grasso, Rita, Marelli, Susan, Castiglia, Lucia, Di Benedetto, Daniela, Musumeci, Sebastiano A., Vitello, Girolamo A., Failla, Pinella, Reitano, Santina, Avola, Emanuela, Bisulli, Francesca, Tinuper, Paolo, Mastrangelo, Massimo, Fiocchi, Isabella, Spaccini, Luigina, Torniero, Claudia, Fontana, Elena, Lynch, Sally Ann, Clayton-Smith, Jill, Black, Graeme, Jonveaux, Philippe, Leheup, Bruno, Seri, Marco, Romano, Corrado, Bernardina, Bernardo dalla, Zuffardi, Orsetta

“…Submicroscopic copy-number variations make a considerable contribution to the genetic etiology of human disease. We have analyzed subjects with idiopathic…”
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Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion by TORNIERO, Claudia, DALLA BERNARDINA, Bernardo, NOVARA, Francesca, CERINI, Roberto, BONAGLIA, Clara, PRAMPARO, Tiziano, CICCONE, Roberto, GUERRINI, Renzo, ZUFFARDI, Orsetta

“…We report a patient with mild pachygyria, ascertained during a screening of subjects with abnormal neuronal migration and/or epilepsy, having a 7q11.23…”
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Benign Myoclonic Epilepsy in Infancy (BMEI): A Longitudinal Electroclinical Study of 22 Cases by Darra, Francesca, Fiorini, Elena, Zoccante, Leonardo, Mastella, Laura, Torniero, Claudia, Cortese, Samuele, Meneghello, Lisa, Fontana, Elena, Bernardina, Bernardo Dalla

“…Purpose: Benign myoclonic epilepsy in infancy (BMEI) is a nosologically well‐defined entity, characterized by myoclonic seizures (MS) in normal children…”
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Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus by TORNIERO, Claudia, DALLA BERNARDINA, Bernardo, NOVARA, Francesca, VETRO, Annalisa, RICCA, Ivana, DARRA, Francesca, PRAMPARO, Tiziano, GUERRINI, Renzo, ZUFFARDI, Orsetta

“…We report on a new duplication case of 7q11.23, reciprocal of the Williams-Beuren (WB) deletion. The patient, a 13-year-old girl, was ascertained within an…”
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Scotosensitive and Photosensitive Myoclonic Seizures in an Infant with Trisomy 13 by Torniero, Claudia, Zuffardi, Orsetta, Darra, Francesca, Dalla Bernardina, Bernardo

“…Summary We describe a male carrier of trisomy 13 with scotosensitive and photosensitive myoclonic seizures appearing at the age of 8 months and persisting…”
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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females by Giorda, Roberto, Bonaglia, M. Clara, Beri, Silvana, Fichera, Marco, Novara, Francesca, Magini, Pamela, Urquhart, Jill, Sharkey, Freddie H., Zucca, Claudio, Grasso, Rita, Marelli, Susan, Castiglia, Lucia, Di Benedetto, Daniela, Musumeci, Sebastiano A., Vitello, Girolamo A., Failla, Pinella, Reitano, Santina, Avola, Emanuela, Bisulli, Francesca, Tinuper, Paolo, Mastrangelo, Massimo, Fiocchi, Isabella, Spaccini, Luigina, Torniero, Claudia, Fontana, Elena, Lynch, Sally Ann, Clayton-Smith, Jill, Black, Graeme, Jonveaux, Philippe, Leheup, Bruno, Seri, Marco, Romano, Corrado, dalla Bernardina, Bernardo, Zuffardi, Orsetta

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A recurrent 15ql3.3 microdeletion syndrome associated with mental retardation and seizures by SHARP, Andrew J, MEFFORD, Heather C, BROOMER, Adam, CASUGA, Iris, YU WANG, CHUNLIN XIAO, BARBACIORU, Catalin, GIMELLI, Giorgio, DALLA BERNARDINA, Bernardo, TORNIERO, Claudia, GIORDA, Roberto, REGAN, Regina, LI, Kelly, MURDAY, Victoria, MANSOUR, Sahar, FICHERA, Marco, CASTIGLIA, Lucia, FAIFLA, Pinella, VENTURA, Mario, ZHAOSHI JIANG, COOPER, Gregory M, KNIGHT, Samantha J. L, ROMANO, Corrado, BAKER, Carl, ZUFFARDI, Orsetta, CAIFU CHEN, SCHWARTZ, Charles E, EICHLER, Evan E, SKINNER, Cindy, STEVENSON, Roger E, SCHROER, Richard J, NOVARA, Francesca, DE GREGORI, Manuela, CICCONE, Roberto

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