Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
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Genetics of bipolar disorderEvolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophreniaJumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic EpidemiologyA genome-wide study of common SNPs and CNVs in cognitive performance in the CANTABA mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment.Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?The Danish 22q11 research initiativeRecurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeChrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunctionAutism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans.Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesDeletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.A de novo convergence of autism genetics and molecular neuroscience.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Oxidative stress-driven parvalbumin interneuron impairment as a common mechanism in models of schizophrenia.New Genetic Findings in Schizophrenia: Is there Still Room for the Dopamine Hypothesis of Schizophrenia?Genomics, intellectual disability, and autismReduced CHRNA7 expression in C3H mice is associated with increases in hippocampal parvalbumin and glutamate decarboxylase-67 (GAD67) as well as altered levels of GABA(A) receptor subunits.Microdeletions of 3q29 confer high risk for schizophrenia.CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practiceGenetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.De novo rates and selection of large copy number variation.Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorderRecurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.The phenotype of recurrent 10q22q23 deletions and duplications.The effects of aging vs. α7 nAChR subunit deficiency on the mouse brain transcriptome: aging beats the deficiency.Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample.Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.Neuronal chromatin dynamics of imprinting in development and diseaseA small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypesGenomic architecture of aggression: rare copy number variants in intermittent explosive disorderNew findings in the genetics of major psychoses15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.
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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
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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 15 March 2009
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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
Microdeletion 15q13.3: a locus ...... on, and psychiatric disorders.
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Microdeletion 15q13.3: a locus ...... on, and psychiatric disorders.
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Microdeletion 15q13.3: a locus ...... on, and psychiatric disorders.
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Microdeletion 15q13.3: a locus ...... on, and psychiatric disorders.
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Microdeletion 15q13.3: a locus ...... on, and psychiatric disorders.
@en
Microdeletion 15q13.3: a locus ...... on, and psychiatric disorders.
@nl
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P2860
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Microdeletion 15q13.3: a locus ...... ion, and psychiatric disorders
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A L Beaudet
A Malphrus
B Moghaddam
G W Bottenfield
J A Rousseau
J E Spence
J R German
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P304
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10.1136/JMG.2008.064378
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P577
2009-03-15T00:00:00Z