LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions
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DOI: 10.1002/aur.2677
Abstract: LRFN5 is a regulator of synaptic development and the only gene in a 5.4 Mb mammalian‐specific conserved topologically associating domain (TAD); the LRFN5 locus. An association between locus structural changes and developmental delay (DD) and/or… read more here.
Keywords: locus structure; associated autism; lrfn5 locus; autism ... See more keywords
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
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DOI: 10.1038/mp.2016.84
Abstract: Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism… read more here.
Keywords: head circumference; associated autism; contacts connect; chromosomal contacts ... See more keywords
An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder
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DOI: 10.1038/s41380-018-0049-x
Abstract: A number of genetic studies have identified rare protein-coding DNA variations associated with autism spectrum disorder (ASD), a neurodevelopmental disorder with significant genetic etiology and heterogeneity. In contrast, the contributions of functional, regulatory genetic variations… read more here.
Keywords: variations associated; etiology; analysis; disorder ... See more keywords
Prenatal, perinatal, and postnatal factors associated with autism
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DOI: 10.1097/md.0000000000006696
Abstract: Background: The aim of this meta-analysis was to investigate the prenatal, perinatal, and postnatal risk factors for children autism. Methods: PubMed, Embase, Web of Science were used to search for studies that examined the prenatal,… read more here.
Keywords: prenatal perinatal; risk; autism; factors associated ... See more keywords