22q11. 2 deletion syndrome
DM McDonald-McGinn, KE Sullivan, B Marino… - Nature reviews Disease …, 2015 - nature.com
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
Neurobiological perspective of 22q11. 2 deletion syndrome
JR Zinkstok, E Boot, AS Bassett, N Hiroi… - The Lancet …, 2019 - thelancet.com
Summary 22q11. 2 deletion syndrome is characterised by a well defined microdeletion that
is associated with a high risk of neuropsychiatric disorders, including intellectual disability …
is associated with a high risk of neuropsychiatric disorders, including intellectual disability …
Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders
Neurodevelopmental disorders have a heritable component and are associated with region
specific alterations in brain anatomy. However, it is unclear how genetic risks for …
specific alterations in brain anatomy. However, it is unclear how genetic risks for …
Large-scale mapping of cortical alterations in 22q11. 2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size
Abstract The 22q11. 2 deletion (22q11DS) is a common chromosomal microdeletion and a
potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in …
potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in …
The genetics and epigenetics of 22q11. 2 deletion syndrome
Q Du, MT de la Morena, NSC van Oers - Frontiers in Genetics, 2020 - frontiersin.org
Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …
noted for its varying severity and penetrance among those affected. The clinical problems …
A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11. 2 deletion syndrome
Recently, increasing numbers of rare pathogenic genetic variants have been identified that
are associated with variably elevated risks of a range of neurodevelopmental outcomes …
are associated with variably elevated risks of a range of neurodevelopmental outcomes …
Mitochondrial proteins encoded by the 22q11. 2 neurodevelopmental locus regulate neural stem and progenitor cell proliferation
PD Campbell, I Lee, S Thyme, M Granato - Molecular psychiatry, 2023 - nature.com
Microdeletion of a 3Mb region encompassing 45 protein-coding genes at chromosome
22q11. 2 (22q11. 2DS) predisposes individuals to multiple neurodevelopmental disorders …
22q11. 2 (22q11. 2DS) predisposes individuals to multiple neurodevelopmental disorders …
In the line-up: deleted genes associated with DiGeorge/22q11. 2 deletion syndrome: are they all suspects?
Abstract Background 22q11. 2 deletion syndrome (22q11DS), a copy number variation
(CNV) disorder, occurs in approximately 1: 4000 live births due to a heterozygous …
(CNV) disorder, occurs in approximately 1: 4000 live births due to a heterozygous …
Update on the 22q11. 2 deletion syndrome and its relevance to schizophrenia
L Van, E Boot, AS Bassett - Current opinion in psychiatry, 2017 - journals.lww.com
Progress in characterizing and predicting psychotic illness in 22q11. 2DS supports this
identifiable subpopulation as a molecular model with important implications for …
identifiable subpopulation as a molecular model with important implications for …
A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11. 2 Deletion Syndrome Brain Behavior Consortium
RE Gur, AS Bassett, DM McDonald-McGinn… - Molecular …, 2017 - nature.com
Rare copy number variants contribute significantly to the risk for schizophrenia, with the
22q11. 2 locus consistently implicated. Individuals with the 22q11. 2 deletion syndrome …
22q11. 2 locus consistently implicated. Individuals with the 22q11. 2 deletion syndrome …