Cargando…

Distinct Neurocognitive Profiles and Clinical Phenotypes Associated with Copy Number Variation at the 22q11.2 Locus

Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup)...

Descripción completa

Detalles Bibliográficos
Autores principales:	O’Hora, Kathleen P., Kushan-Wells, Leila, Hoftman, Gil D., Jalbrzikowski, Maria, Gur, Raquel C., Gur, Ruben, Bearden, Carrie E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246073/ https://www.ncbi.nlm.nih.gov/pubmed/37292882 http://dx.doi.org/10.1101/2023.05.12.23289905

Ejemplares similares

Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance
por: O’Hora, Kathleen P., et al.
Publicado: (2022)

Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression
por: Lin, Amy, et al.
Publicado: (2021)

Effects of Gene Dosage and Development on Subcortical Nuclei Volumes in Individuals with 22q11.2 Copy Number Variations
por: Schleifer, Charles H., et al.
Publicado: (2023)

Longitudinal trajectories of cortical development in 22q11.2 copy number variants and typically developing controls
por: Jalbrzikowski, Maria, et al.
Publicado: (2022)

Sleep in 22q11.2 Deletion Syndrome: Current Findings, Challenges, and Future Directions
por: O’Hora, Kathleen P., et al.
Publicado: (2023)

Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome
por: Moore, Tyler M., et al.
Publicado: (2021)

Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome
por: Gur, Ruben C., et al.
Publicado: (2021)

Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome
por: Gur, Raquel E., et al.
Publicado: (2023)

A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome
por: Fiksinski, Ania M., et al.
Publicado: (2022)

Neurobehavioral Dimensions of Prader Willi Syndrome: Relationships Between Sleep and Psychosis-Risk Symptoms
por: O'Hora, Kathleen P., et al.
Publicado: (2022)

Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders
por: Jalal, Rhideeta, et al.
Publicado: (2021)

M155. RECIPROCAL CHANGES IN WHITE MATTER MICROSTRUCTURE IN 22Q11.2 DELETION AND DUPLICATION SYNDROME
por: Seitz, Johanna, et al.
Publicado: (2020)

Disrupted anatomic networks in the 22q11.2 deletion syndrome
por: Schmitt, J. Eric, et al.
Publicado: (2016)

Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics
por: Forsyth, Jennifer K, et al.
Publicado: (2021)

Neural mechanisms of response inhibition and impulsivity in 22q11.2 deletion carriers and idiopathic attention deficit hyperactivity disorder()
por: Montojo, C.A., et al.
Publicado: (2015)

Structural abnormalities in cortical volume, thickness, and surface area in 22q11.2 microdeletion syndrome: Relationship with psychotic symptoms()
por: Jalbrzikowski, Maria, et al.
Publicado: (2013)

Altered white matter microstructure is associated with social cognition and psychotic symptoms in 22q11.2 microdeletion syndrome
por: Jalbrzikowski, Maria, et al.
Publicado: (2014)

Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers
por: Seitz-Holland, Johanna, et al.
Publicado: (2021)

Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion
por: Gudbrandsen, Maria, et al.
Publicado: (2020)

The 22q11.2 Low Copy Repeats
por: Vervoort, Lisanne, et al.
Publicado: (2022)

Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder
por: Jalbrzikowski, Maria, et al.
Publicado: (2015)

Atypical functional connectivity in resting-state networks of individuals with 22q11.2 deletion syndrome: associations with neurocognitive and psychiatric functioning
por: Mattiaccio, Leah M., et al.
Publicado: (2016)

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
por: Bassett, Anne S., et al.
Publicado: (2008)

Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome
por: Tang, S X, et al.
Publicado: (2017)

The impact of 22q11.2 copy-number variants on human traits in the general population
por: Zamariolli, Malú, et al.
Publicado: (2023)

Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants
por: Verbesselt, Jente, et al.
Publicado: (2023)

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing
por: Cornblath, Eli J., et al.
Publicado: (2021)

22q11.2 Low Copy Repeats Expanded in the Human Lineage
por: Vervoort, Lisanne, et al.
Publicado: (2021)

Social behavior in 16p11.2 and 22q11.2 copy number variations: Insights from mice and humans
por: Benedetti, Arianna, et al.
Publicado: (2021)

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
por: Delorme, Richard, et al.
Publicado: (2010)

Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings
por: Verbesselt, Jente, et al.
Publicado: (2022)

Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome
por: Niarchou, Maria, et al.
Publicado: (2019)

Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder
por: Alhazmi, Safiah, et al.
Publicado: (2022)

Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study
por: Villalón-Reina, Julio E., et al.
Publicado: (2019)

F72. NEUROCOGNITION AND ADAPTIVE FUNCTIONING IN THE 22Q11.2 DELETION SYNDROME MODEL OF SCHIZOPHRENIA
por: Ania, Fiksinski, et al.
Publicado: (2018)

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3
por: Guo, Tingwei, et al.
Publicado: (2017)

Striatal dopaminergic alterations in individuals with copy number variants at the 22q11.2 genetic locus and their implications for psychosis risk: a [18F]-DOPA PET study
por: Rogdaki, Maria, et al.
Publicado: (2021)

Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array
por: Cai, Meiying, et al.
Publicado: (2020)

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size
por: Sun, Daqiang, et al.
Publicado: (2018)

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
por: Cleynen, Isabelle, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_lhk2amt93ltlvpemg8bhbnesbc