Childhood-onset schizophrenia: a systematic overview of its genetic heterogeneity from classical studies to the genomic era
Childhood-onset schizophrenia (COS), a very rare and severe chronic psychiatric condition,
is defined by an onset of positive symptoms (delusions, hallucinations and disorganized …
is defined by an onset of positive symptoms (delusions, hallucinations and disorganized …
NDE1 and NDEL1 from genes to (mal) functions: parallel but distinct roles impacting on neurodevelopmental disorders and psychiatric illness
Abstract NDE1 (Nuclear Distribution Element 1, also known as NudE) and NDEL1 (NDE-
Like 1, also known as NudEL) are the mammalian homologues of the fungus nudE gene …
Like 1, also known as NudEL) are the mammalian homologues of the fungus nudE gene …
CONDEL: detecting copy number variation and genoty** deletion zygosity from single tumor samples using sequence data
X Yuan, J Bai, J Zhang, L Yang, J Duan… - … /ACM transactions on …, 2018 - ieeexplore.ieee.org
Characterizing copy number variations (CNVs) from sequenced genomes is a both feasible
and cost-effective way to search for driver genes in cancer diagnosis. A number of existing …
and cost-effective way to search for driver genes in cancer diagnosis. A number of existing …
Reversal of proliferation deficits caused by chromosome 16p13. 11 microduplication through targeting NFκB signaling: an integrated study of patient-derived neuronal …
The molecular basis of how chromosome 16p13. 11 microduplication leads to major
psychiatric disorders is unknown. Here we have undertaken brain imaging of patients …
psychiatric disorders is unknown. Here we have undertaken brain imaging of patients …
16p13. 11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up
M Cai, Y Que, X Chen, Y Chen, B Liang… - BMC Pregnancy and …, 2022 - Springer
Abstract Objectives 16p13. 11 microdeletion/microduplication are rare genetic diseases with
incomplete penetrance, most of which have been reported in adults and children, with …
incomplete penetrance, most of which have been reported in adults and children, with …
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder
A Hnoonual, W Thammachote, T Tim-Aroon… - Scientific reports, 2017 - nature.com
Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection
of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims …
of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims …
Nomo1 deficiency causes autism-like behavior in zebrafish
Q Zhang, F Li, T Li, J Lin, J Jian, Y Zhang, X Chen… - EMBO …, 2024 - embopress.org
Patients with neuropsychiatric disorders often exhibit a combination of clinical symptoms
such as autism, epilepsy, or schizophrenia, complicating diagnosis and development of …
such as autism, epilepsy, or schizophrenia, complicating diagnosis and development of …
[HTML][HTML] Underrepresentation of phenotypic variability of 16p13. 11 microduplication syndrome assessed with an online self-phenoty** tool (Phenotypr): cohort study
J Li, MA Hojlo, S Chennuri, N Gujral… - Journal of medical …, 2021 - jmir.org
Background 16p13. 11 microduplication syndrome has a variable presentation and is
characterized primarily by neurodevelopmental and physical phenotypes resulting from …
characterized primarily by neurodevelopmental and physical phenotypes resulting from …
Rrn3 gene knockout affects ethanol-induced locomotion in adult heterozygous zebrafish
F Li, J Lin, T Li, J Jian, Q Zhang, Y Zhang, X Liu… - Psychopharmacology, 2022 - Springer
Genome-wide analysis has identified the transcription factor, RRN3 (or TIF-1A), on human
chromosome 16p13. 11 as a candidate gene associated with mental disorders. Both genetic …
chromosome 16p13. 11 as a candidate gene associated with mental disorders. Both genetic …
Biological role of nodal modulator: A comprehensive review of the last two decades
Y Sun, T Li, X Qian - DNA and Cell Biology, 2022 - liebertpub.com
Nodal modulator (NOMO) is a type I transmembrane protein that is conserved in various
human tissues. Humans have three highly similar NOMO proteins, namely NOMO1, NOMO2 …
human tissues. Humans have three highly similar NOMO proteins, namely NOMO1, NOMO2 …