15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

Human Mutation

Volumn 36, Issue 7, 2015, Pages 689-693

  Noor, Abdul ^a,b,c   Dupuis, Lucie ^a   Mittal, Kirti ^d   Lionel, Anath C ^e   Marshall, Christian R ^a,e,f   Scherer, Stephen W ^c,e,f   Stockley, Tracy ^a,c,g   Vincent, John B ^d   Mendoza Londono, Roberto ^a   Stavropoulos, Dimitri J ^a,c  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

^g UNIVERSITY HEALTH NETWORK   (Canada)

Author keywords

Autism; Copy number variants; Imprinting; Neuropsychiatric; UBE3A

Indexed keywords

GENOMIC DNA; METHYLPHENIDATE; UBIQUITIN PROTEIN LIGASE E3; UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

AGGRESSION; ALBERS SCHOENBERG DISEASE; ALLOGENIC BONE MARROW TRANSPLANTATION; ANXIETY DISORDER; APGAR SCORE; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DEPRESSION; DEVELOPMENTAL DISORDER; DNA EXTRACTION; DNA FLANKING REGION; DNA METHYLATION; EDUCATION PROGRAM; FAILURE TO THRIVE; FAMILY; FEMALE; FETUS DISTRESS; FIBROBLAST CULTURE; GENE EXPRESSION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; IMPULSIVENESS; INFANT DISEASE; INFANTILE OSTEOPETROSIS; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MALE; MICROARRAY ANALYSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROPSYCHIATRY; OBSESSIVE COMPULSIVE DISORDER; PENETRANCE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHIZOPHRENIA; SCHOOL CHILD; SHORT STATURE; SIGN LANGUAGE; SPEECH THERAPY; CHROMOSOME 15; FIBROBLAST; GENE DUPLICATION; GENETIC ASSOCIATION STUDY; GENETICS; METABOLISM; NEUROLOGIC DISEASE; PHENOTYPE;

CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; FEMALE; FIBROBLASTS; GENE DUPLICATION; GENETIC ASSOCIATION STUDIES; HUMANS; NERVOUS SYSTEM DISEASES; PHENOTYPE; UBIQUITIN-PROTEIN LIGASES;

EID: 84931569823     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22800     Document Type: Article

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