Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.
Sign Up to like & getrecommendations! Published in 2020 at "Molecular biology reports"
DOI: 10.1007/s11033-020-05743-6
Abstract: Intellectual disability is a neurodevelopmental disorder in which genetic, epigenetic and environmental factors are involved. In consequence, the determination of its etiology is usually complex. Though many countries have migrated from conventional cytogenetic analysis to… read more here.
Keywords: intellectual disability; public health; chromosomal microarrays; implementation chromosomal ... See more keywords
Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of pediatric genetics"
DOI: 10.1055/s-0036-1584306
Abstract: Chromosomal microarray (CMA) testing, used to identify DNA copy number variations (CNVs), has helped advance knowledge about genetics of human neurodevelopmental disease and congenital anomalies. It has aided in discovering new CNV syndromes and uncovering… read more here.
Keywords: congenital anomalies; chromosomal microarrays; microarrays understanding; understanding genetics ... See more keywords
Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0496-5
Abstract: BackgroundCurrently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations. The modern platforms also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions… read more here.
Keywords: chromosomal microarrays; contiguous stretches; long contiguous; microarrays cma ... See more keywords