Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. - Wikidata - awgldk - TriplyDB

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.

http://www.wikidata.org/entity/Q37470598

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CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1 Evaluating genetic counseling for individuals with schizophrenia in the molecular age Reversing chromatin accessibility differences that distinguish homologous mitotic metaphase chromosomes.Adult expression of a 3q13.31 microdeletion.The importance of copy number variation in congenital heart disease Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.High-resolution copy number variation analysis of schizophrenia in Japan.MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact Response to clozapine in a clinically identifiable subtype of schizophrenia.Adult neuropsychiatric expression and familial segregation of 2q13 duplications Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets.A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.Evidence for the multiple hits genetic theory for inherited language impairment: a case study.Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.Integrative approach for inference of gene regulatory networks using lasso-based random featuring and application to psychiatric disorders Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome A high-resolution copy-number variation resource for clinical and population genetics.Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 1q21.1 Microduplication expression in adults.Individualizing recurrence risks for severe mental illness: epidemiologic and molecular genetic approaches.Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.Recent genetic findings in schizophrenia and their therapeutic relevance The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment.A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder.Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.Reduced Slc1a1 expression is associated with neuroinflammation and impaired sensorimotor gating and cognitive performance in mice: Implications for schizophrenia.Prenatal genetic testing with chromosomal microarray analysis identifies major risk variants for schizophrenia and other later-onset disorders.Characterization of a Novel Mutation in SLC1A1 Associated with Schizophrenia.The 3q29 deletion confers >40-fold increase in risk for schizophrenia Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

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Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.

http://www.wikidata.org/entity/Q37470598

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 27 June 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Pathogenic rare copy number va ...... role for clinical microarrays.

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Pathogenic rare copy number va ...... role for clinical microarrays.

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type

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Pathogenic rare copy number va ...... role for clinical microarrays.

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Pathogenic rare copy number va ...... role for clinical microarrays.

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Pathogenic rare copy number va ...... role for clinical microarrays.

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Pathogenic rare copy number va ...... role for clinical microarrays.

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Human Molecular Genetics

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Anath C Lionel

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Anne S Bassett

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Chelsea Lowther

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Christian R Marshall

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Daniele Merico

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Dimitri J Stavropoulos

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Eva W C Chow

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Gregory Costain

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Janice Husted

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Kathryn Russell

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P2860

Rethinking schizophrenia

Copy-number variations associated with neuropsychiatric conditions

Are rare variants responsible for susceptibility to complex diseases?

Rare chromosomal deletions and duplications increase risk of schizophrenia

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

Functional impact of global rare copy number variation in autism spectrum disorders

Disruption of the neurexin 1 gene is associated with schizophrenia

Structural variation of chromosomes in autism spectrum disorder

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

PLINK: a tool set for whole-genome association and population-based linkage analyses

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4485-4501

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scholarly article

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10.1093/HMG/DDT297

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22

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22

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Marsha D Speevak

Stephen W. Scherer

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2013-06-27T00:00:00Z

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243969960

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23813976

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