Clinical characterization of patients with schizophrenia and 16p13. 11 duplication: A case series

H Kimura, I Kushima, M Banno, T Inada… - …, 2023 - Wiley Online Library
… SCZ and 16p13.11 duplication who were identified in our previous copy number variant (CNV)
study. … CNVs in the 16p13.11 region were identified in four patients with SCZ using two …

Copy number variant syndromes are frequent in schizophrenia: progressing towards a CNV-schizophrenia model

V Sriretnakumar, CC Zai, S Wasim… - Schizophrenia …, 2019 - Elsevier
… sizes and a handful of copy number variants (CNVs). This … for various tissue types, including
various brain regions, for … carry a microdeletion of chromosome 16p13.3 encompassing …

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder

OO Gudmundsson, GB Walters, A Ingason… - Translational …, 2019 - nature.com
… Rare copy number variations (CNVs) have been associated … have previously been associated
with ADHD, 16p13.11 … Furthermore, ADHD has been reported in individuals with 1q21.1

16p13. 11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons

ED Buttermore, NC Anderson, PF Chen… - Frontiers in …, 2022 - frontiersin.org
… been linked to chromosomal copy number variants (CNVs) (1–… The region of chromosome
16p13.11 containing CNVs is … The association between schizophrenia and 16p13.11 …

[HTML][HTML] Genome-wide copy number variant screening of Saudi schizophrenia patients reveals larger deletions in cases versus controls

MS Abumadini, KS Al Ghamdi, AH Alqahtani… - Frontiers in Molecular …, 2023 - frontiersin.org
… for copy number variants (CNVs). A hidden Markov model approach was used to call CNVs.
… −2 and +2, so as to exclude regions with real copy number variation) or for BAF (only for …

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

IE Sønderby, CRK Ching, SI Thomopoulos… - Human brain …, 2022 - Wiley Online Library
… one copy of region D, red) or duplication (three copies of region D, blue) compared with the
normal copy number (two copies of region … method to detect copy number variants (CNVs) by …

The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability

F Gimeno-Ferrer, D Albuquerque… - Journal of Human …, 2019 - nature.com
… between copy number variations (CNVs) detected by microarray mapping on 16p region
and … were classified as: (I) one previously non-described 10-Mb duplication in 16p13.2p12.3 …

Increased prevalence of rare copy number variants in treatment-resistant psychosis

M Farrell, TE Dietterich, MK Harner… - Schizophrenia …, 2023 - academic.oup.com
… -associated copy number variants (CNVs) and worse clinical outcomes in schizophrenia. …
b This prevalence reflects both duplications and deletions of 16p13.11 region and thus this …

[PDF][PDF] The impact of Copy Number Variants: from schizophrenia to forensic routine

AMC de Almeida - 2023 - repositorio-aberto.up.pt
… In addition to its association with schizophrenia, the 15q11.2 region is also associated with
other health issues. These include congenital heart disease (CHD), epilepsy, developmental …

Joint contributions of rare copy number variants and common SNPs to risk for schizophrenia

, … Analysis Group and the Schizophrenia … - American Journal of …, 2019 - Am Psychiatric Assoc
… >50% with regions tagged as copy number polymorphic on … .2 deletions, 16p13.11 duplications,
and 1q21.1 duplications) did … the risk of schizophrenia (all variants, p≤5.5×10 −9 ). The …