Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We characterized at the molecular level the genomic rearran...

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Vydáno v:	PLoS genetics Ročník 7; číslo 7; s. e1002173
Hlavní autoři:	Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States Public Library of Science 01.07.2011 Public Library of Science (PLoS)
Témata:	Adolescent Adult Aged Aged, 80 and over Base Sequence Biology Child Child, Preschool Chromosome Deletion Chromosome Disorders - genetics Chromosomes Chromosomes, Human, Pair 22 - genetics Comparative Genomic Hybridization Cytogenetics Diagnosis Female Genetic aspects Genetics Humans Hypotheses In situ hybridization Infant Infant, Newborn Male Medicine Mental retardation Middle Aged Molecular Sequence Data Parents Phelan-McDermid syndrome Polymerase chain reaction Ring Chromosomes Sequence Deletion - genetics Social interaction Translocation, Genetic Young Adult Italy
ISSN:	1553-7404, 1553-7390, 1553-7404
On-line přístup:	Získat plný text
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