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 …
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
Chromosome 22q11. 2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
DM McDonald-McGinn, KE Sullivan - Medicine, 2011 - journals.lww.com
Abstract Chromosome 22q11. 2 deletion syndrome is a common syndrome also known as
DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …
DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …
A surface-based approach to quantify local cortical gyrification
The high complexity of cortical convolutions in humans is very challenging both for
engineers to measure and compare it, and for biologists and physicians to understand it. In …
engineers to measure and compare it, and for biologists and physicians to understand it. In …
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
Abstract Individuals with 22q11. 2 microdeletions show behavioral and cognitive deficits and
are at high risk of developing schizophrenia. We analyzed an engineered mouse strain …
are at high risk of developing schizophrenia. We analyzed an engineered mouse strain …
Prevalence and correlates of hoarding behavior in a community-based sample
Little is known about the prevalence and correlates of hoarding behavior in the community.
We estimated the prevalence and evaluated correlates of hoarding in 742 participants in the …
We estimated the prevalence and evaluated correlates of hoarding in 742 participants in the …
Refining the diagnostic boundaries of compulsive hoarding: a critical review
A Pertusa, RO Frost, MA Fullana, J Samuels… - Clinical psychology …, 2010 - Elsevier
Like most human behaviors, saving and collecting possessions can range from totally
normal and adaptive to excessive or pathological. Hoarding, or compulsive hoarding, are …
normal and adaptive to excessive or pathological. Hoarding, or compulsive hoarding, are …
Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement
LK Paul - Journal of neurodevelopmental disorders, 2011 - Springer
This review provides an overview of the involvement of the corpus callosum (CC) in a variety
of developmental disorders that are currently defined exclusively by genetics …
of developmental disorders that are currently defined exclusively by genetics …
The 22q11. 2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms
JAS Vorstman, MEJ Morcus, SN Duijff… - Journal of the American …, 2006 - Elsevier
OBJECTIVE: To examine psychopathology and influence of intelligence level on psychiatric
symptoms in children with the 22q11. 2 deletion syndrome (22q11DS). METHOD: Sixty …
symptoms in children with the 22q11. 2 deletion syndrome (22q11DS). METHOD: Sixty …
Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11. 2 deletion) syndrome
OBJECTIVE: Velocardiofacial syndrome (VCFS) is associated with cognitive deficits and
high rates of schizophrenia and other neuropsychiatric disorders. We report the data from …
high rates of schizophrenia and other neuropsychiatric disorders. We report the data from …