Cargando…
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis
BACKGROUND: Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this...
Autores principales: | Caramaschi, Elisa, Stanghellini, Ilaria, Magini, Pamela, Giuffrida, Maria Grazia, Scullin, Silvia, Giuva, Tiziana, Bergonzini, Patrizia, Guerra, Azzurra, Paolucci, Paolo, Percesepe, Antonio |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014206/ https://www.ncbi.nlm.nih.gov/pubmed/24775911 http://dx.doi.org/10.1186/1824-7288-40-39 |
Ejemplares similares
-
Electrographic Changes Accompanying Recurrent Seizures under Ketogenic Diet Treatment
por: Lucchi, Chiara, et al.
Publicado: (2017) -
Copy number variations in Saudi family with intellectual disability and epilepsy
por: Naseer, Muhammad I., et al.
Publicado: (2016) -
Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy
por: Kessi, Miriam, et al.
Publicado: (2018) -
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in
Humans
por: Elmakky, Amira, et al.
Publicado: (2015) -
EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report
por: Filareto, Ilaria, et al.
Publicado: (2022)