22q11.2 Deletion Syndrome Is Associated With Impaired Auditory Steady-State Gamma Response
Sign Up to like & getrecommendations! Published in 2018 at "Schizophrenia Bulletin"
DOI: 10.1093/schbul/sbx058
Abstract: Abstract Background The 22q11.2 deletion syndrome confers a markedly increased risk for schizophrenia. 22q11.2 deletion carriers without manifest psychotic disorder offer the possibility to identify functional abnormalities that precede clinical onset. Since schizophrenia is associated… read more here.
Keywords: assr; response; deletion carriers; deletion ... See more keywords
Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106676
Abstract: Background X-linked ichthyosis (XLI) is an uncommon dermatological condition resulting from a deficiency of the enzyme steroid sulfatase (STS), often caused by X-linked deletions spanning STS. Some medical comorbidities have been identified in XLI cases,… read more here.
Keywords: neurobehavioural phenotypes; genetic deletions; deletion carriers; medical neurobehavioural ... See more keywords
Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108862
Abstract: Background Genetic deletions at Xp22.31 are associated with the skin condition X linked ichthyosis (XLI), and with a substantially increased risk of atrial fibrillation/flutter (AF), in males. AF is associated with elevated thrombosis, heart failure,… read more here.
Keywords: deletion; xp22 deletion; associated xp22; risk ... See more keywords
Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.
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DOI: 10.1148/radiol.2017162934
Abstract: Purpose To identify developmental neuroradiologic findings in a large cohort of carriers who have deletion and duplication at 16p11.2 (one of the most common genetic causes of autism spectrum disorder [ASD]) and assess how these… read more here.
Keywords: duplication; age; deletion carriers; age range ... See more keywords