[HTML][HTML] Schizophrenia-related microdeletion causes defective ciliary motility and brain ventricle enlargement via microRNA-dependent mechanisms in mice

TY Eom, SB Han, J Kim, JA Blundon, YD Wang… - Nature …, 2020 - nature.com
… have a 22q11.2 chromosomal microdeletion. The most frequent changes are seen in the …
+/− mice; however, the increase in the TV was significantly larger in 8-month-old Df(16)1/+ mice …

[HTML][HTML] Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia

BA Mojarad, Y Yin, R Manshaei, I Backstrom… - Translational …, 2021 - nature.com
… A priori, individuals with 22q11.2 microdeletions were … of high-impact TREs in the genomes
of our schizophrenia cohort, … management, and familial recurrence risk assessment, and as …

[HTML][HTML] Copy number variations and schizophrenia

K Szecówka, B Misiak, I Łaczmańska, D Frydecka… - Molecular …, 2023 - Springer
… of larger (> 500 kb) exonic CNVs in schizophrenia and the … , schizophrenia has been associated
with several recurrent CNVs… Microdeletion in this region is correlated with schizophrenia

[HTML][HTML] Use of mouse models to investigate the contributions of CNVs associated with schizophrenia and autism to disease mechanisms

SE Hyman - Current Opinion in Genetics & Development, 2021 - Elsevier
associated with schizophrenia and autism spectrum disorders (ASDs). Despite their structural
complexity, the high penetrance of CNVs associated with … The most frequently recurring

Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia

L Jurisova, R Solc - Journal of Genetics, 2023 - Springer
… has attracted attention due to the potentially high impact––the … into recurrent and
nonrecurrent (sporadic) which is related to … Changes in gene dose caused by microdeletion or …

Late onset psychosis in a case of 15q11.2 BP1-BP2 microdeletion (Burnside–Butler) syndrome: A case report and literature review

S Das, V Shet, S Palakodeti, P Pokhrel… - … Open Medical Case …, 2024 - journals.sagepub.com
… Individuals with PWS and larger type I deletions exhibit more … BP1-BP2 microdeletion is
situated between BP1 and BP2 … The patient also experienced chronic dysthymia due to multiple …

[HTML][HTML] Schizophrenia risk mediated by microRNA target genes overlapped by genome-wide rare copy number variation in 22q11. 2 deletion syndrome

S Ying, T Heung, Z Zhang, RKC Yuen… - Frontiers in …, 2022 - frontiersin.org
… The recurrent chromosome 22q11.2 microdeletion that defines … and is associated with
an over 20-fold increased risk for … in the schizophrenia group for genes with high/medium …

Neuroimaging phenotypes associated with risk and resilience for psychosis and autism spectrum disorders in 22q11. 2 microdeletion syndrome

M Jalbrzikowski - Biological Psychiatry: Cognitive Neuroscience and …, 2021 - Elsevier
microdeletion syndrome (22q11DS) is caused by a recurrent … increased risk for developing
psychosis and/or ASD. In this … -psychosis+ versus 22q11DS-psychosis− and found largest

[HTML][HTML] Detection of morphological abnormalities in schizophrenia: an important step to identify associated genetic disorders or etiologic subtypes

AC Priol, L Denis, G Boulanger, M Thépaut… - International Journal of …, 2021 - mdpi.com
… in individuals with ultra-high risk of schizophrenia. Several dysmorphic … patients and are more
frequent in familial schizophrenia [26], … The microdeletion of the chromosome 3q29 region (…

[HTML][HTML] A case for thalamic mechanisms of schizophrenia: perspective from modeling 22q11. 2 deletion syndrome

Y Jiang, MH Patton, SS Zakharenko - Frontiers in Neural Circuits, 2021 - frontiersin.org
Schizophrenia is a severe, chronic psychiatric disorder that devastates the lives of millions of
… For instance, the first large microdeletion identified as a risk for schizophrenia was found on …