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

Submicroscopic copy-number variations make a considerable contribution to the genetic etiology of human disease. We have analyzed subjects with idiopathic mental retardation (MR) by using whole-genome oligonucleotide-based array comparative genomic hybridization (aCGH) and identified familial and de...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2771536/
https://ncbi.nlm.nih.gov/pubmed/19716111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.08.001
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