Cargando…
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder
Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Tha...
Autores principales: | Hnoonual, Areerat, Thammachote, Weerin, Tim-Aroon, Thipwimol, Rojnueangnit, Kitiwan, Hansakunachai, Tippawan, Sombuntham, Tasanawat, Roongpraiwan, Rawiwan, Worachotekamjorn, Juthamas, Chuthapisith, Jariya, Fucharoen, Suthat, Wattanasirichaigoon, Duangrurdee, Ruangdaraganon, Nichara, Limprasert, Pornprot, Jinawath, Natini |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608768/ https://www.ncbi.nlm.nih.gov/pubmed/28935972 http://dx.doi.org/10.1038/s41598-017-12317-3 |
Ejemplares similares
-
Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects
por: Rojnueangnit, Kitiwan, et al.
Publicado: (2019) -
Case Report: An Atypical Angelman Syndrome Case With Obesity and Fulfilled Autism Spectrum Disorder Identified by Microarray
por: Hnoonual, Areerat, et al.
Publicado: (2021) -
Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis
por: Thongpradit, Supranee, et al.
Publicado: (2020) -
Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature
por: Charalsawadi, Chariyawan, et al.
Publicado: (2022) -
Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder
por: Hnoonual, Areerat, et al.
Publicado: (2021)