Cargando…
MLPA analysis in a cohort of patients with autism
BACKGROUND: Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes h...
Autores principales: | Peixoto, Sara, Melo, Joana B., Ferrão, José, Pires, Luís M., Lavoura, Nuno, Pinto, Marta, Oliveira, Guiomar, Carreira, Isabel M. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292146/ https://www.ncbi.nlm.nih.gov/pubmed/28174603 http://dx.doi.org/10.1186/s13039-017-0302-z |
Ejemplares similares
-
Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients
por: Carreira, Isabel Marques, et al.
Publicado: (2015) -
Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
por: Matoso, Eunice, et al.
Publicado: (2014) -
Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
por: Manero-Azua, Africa, et al.
Publicado: (2023) -
Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences
por: Nygren, Anders O. H., et al.
Publicado: (2005) -
Sequencing data and MLPA analysis data in support of the effectiveness and reliability of an asymmetric PCR-Based approach in preparing long MLPA probes
por: Ling, Xingyuan, et al.
Publicado: (2015)