The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature

Autism Research

Volumn 6, Issue 4, 2013, Pages 268-279

  Urraca, Nora ^a   Cleary, Julie ^b,g   Brewer, Victoria ^a   Pivnick, Eniko K ^a   Mcvicar, Kathryn ^a   Thibert, Ronald L ^c   Schanen, N Carolyn ^d   Esmer, Carmen ^e   Lamport, Dustin ^f   Reiter, Lawrence T ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b UNIVERSITY OF MEMPHIS   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d NEMOURS CHILDREN S CLINIC   (United States)

^e HOSPITAL CENTRAL DR IGNACIO MORONES PRIETO   (Mexico)

^f UNIVERSITY OF SOUTH ALABAMA   (United States)

^g LE BONHEUR CHILDREN S HOSPITAL   (United States)

Author keywords

15q duplication; Autism; Copy number variation; Imprinting; UBE3A

Indexed keywords

SMALL NUCLEAR RIBONUCLEOPROTEIN; UBIQUITIN PROTEIN LIGASE E3;

ADOLESCENT; ARTICLE; AUTISM; CHILD; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; FACE MALFORMATION; GENOTYPE; HUMAN; INTELLIGENCE QUOTIENT; LANGUAGE ABILITY; MALE; METHYLATION; MOLECULAR SIZE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SLEEP DISORDER; TERATOLOGY;

15Q DUPLICATION; AUTISM; COPY NUMBER VARIATION; IMPRINTING; UBE3A;

ADOLESCENT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; ELECTROENCEPHALOGRAPHY; FACIES; FEMALE; GENE DUPLICATION; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; PHENOTYPE; RISK FACTORS; SLEEP DISORDERS;

EID: 84882269902     PISSN: 19393792     EISSN: 19393806     Source Type: Journal    
DOI: 10.1002/aur.1284     Document Type: Article

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