Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

American Journal of Human Genetics

Volumn 94, Issue 6, 2014, Pages 870-883

  Blumenthal, Ian ^a   Ragavendran, Ashok ^a   Erdin, Serkan ^a   Klei, Lambertus ^b   Sugathan, Aarathi ^a   Guide, Jolene R ^a   Manavalan, Poornima ^a   Zhou, Julian Q ^e   Wheeler, Vanessa C ^a   Levin, Joshua Z ^c   Ernst, Carl ^d   Roeder, Kathryn ^e   Devlin, Bernie ^b   Gusella, James F ^a,c   Talkowski, Michael E ^a,c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d MCGILL UNIVERSITY   (Canada)

^e CARNEGIE MELLON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; RNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTISM; BRAIN CORTEX; CELL ADHESION; CHROMATIN; CHROMOSOME 16P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DIPLOIDY; DNA CONFORMATION; GENE EXPRESSION REGULATION; GENE INTERACTION; GENE PRODUCT; GENETIC ASSOCIATION; HISTONE METHYLATION; HUMAN; INTELLECTUAL IMPAIRMENT; LYMPHOBLAST; MOLECULAR PATHOLOGY; MOUSE; MOUSE MODEL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN MODIFICATION; RNA PROCESSING; RNA SEQUENCE; SEGMENTAL DUPLICATION; WILD TYPE; CEP290 GENE; CHD8 GENE; CHROMATIN STRUCTURE; CHROMOSOME DELETION 16P11.2; CLINICAL ARTICLE; CONFORMATION; CYTOARCHITECTURE; EHMT1 GENE; FMR1 GENE; GENE; GENE DELETION; GENE DISRUPTION; GENE DUPLICATION; GENE REGULATORY NETWORK; GENOMICS; HUMAN CELL; MECP2 GENE; NEUROPATHOLOGY; NRXN1 GENE; NRXN3 GENE; SATB2 GENE; SYNAPTIC TRANSMISSION; TCF4 GENE; TRANSCRIPTION REGULATION;

ANIMALS; AUTISTIC DISORDER; CEREBRAL CORTEX; CHILD; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 16; DNA COPY NUMBER VARIATIONS; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, RNA; TRANSCRIPTION, GENETIC;

EID: 84902164648     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.05.004     Document Type: Article

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