22q11. 2 deletion syndrome
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 …
Primary mitochondrial disease and secondary mitochondrial dysfunction: importance of distinction for diagnosis and treatment
DM Niyazov, SG Kahler, RE Frye - Molecular syndromology, 2016 - karger.com
Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective
cellular energy production due to abnormal oxidative phosphorylation (oxphos). Primary …
cellular energy production due to abnormal oxidative phosphorylation (oxphos). Primary …
The genetic architecture of the human cerebral cortex
INTRODUCTION The cerebral cortex underlies our complex cognitive capabilities.
Variations in human cortical surface area and thickness are associated with neurological …
Variations in human cortical surface area and thickness are associated with neurological …
Molecular genetics of 22q11. 2 deletion syndrome
The 22q11. 2 deletion syndrome (22q11. 2DS) is a congenital malformation and
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …
[HTML][HTML] The mitochondrial citrate transporter, CIC, is essential for mitochondrial homeostasis
O Catalina-Rodriguez, VK Kolukula, Y Tomita, A Preet… - Oncotarget, 2012 - ncbi.nlm.nih.gov
Dysregulation of the pathways that preserve mitochondrial integrity hallmarks many human
diseases including diabetes, neurodegeration, aging and cancer. The mitochondrial citrate …
diseases including diabetes, neurodegeration, aging and cancer. The mitochondrial citrate …
Neocortical neurogenesis and the etiology of autism spectrum disorder
A Packer - Neuroscience & Biobehavioral Reviews, 2016 - Elsevier
Researchers have now identified many highly penetrant genetic risk factors for autism
spectrum disorder (ASD). Some of these genes encode synaptic proteins, lending support to …
spectrum disorder (ASD). Some of these genes encode synaptic proteins, lending support to …
The role of alpha-synuclein and other Parkinson's genes in neurodevelopmental and neurodegenerative disorders
Neurodevelopmental and late-onset neurodegenerative disorders present as separate
entities that are clinically and neuropathologically quite distinct. However, recent evidence …
entities that are clinically and neuropathologically quite distinct. However, recent evidence …
The 22q11. 2 region regulates presynaptic gene-products linked to schizophrenia
It is unclear how the 22q11. 2 deletion predisposes to psychiatric disease. To study this, we
generated induced pluripotent stem cells from deletion carriers and controls and utilized …
generated induced pluripotent stem cells from deletion carriers and controls and utilized …
22q11 deletion syndrome: current perspective
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy
repeats or segmental duplications. This region of the chromosome is very unstable and …
repeats or segmental duplications. This region of the chromosome is very unstable and …
Cognitive, behavioural and psychiatric phenotype in 22q11. 2 deletion syndrome
N Philip, A Bassett - Behavior genetics, 2011 - Springer
Abstract 22q11. 2 Deletion syndrome has become an important model for understanding the
pathophysiology of neurodevelopmental conditions, particularly schizophrenia which …
pathophysiology of neurodevelopmental conditions, particularly schizophrenia which …