Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: Identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

Journal of Medical Genetics

Volumn 47, Issue 4, 2010, Pages 223-229

  Williams, Stephen R ^a   Girirajan, Santhosh ^a   Tegay, David ^b   Nowak, Norma ^c,d   Hatchwell, Eli ^e   Elsea, Sarah H ^a,f  

^a VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^b NEW YORK INSTITUTE OF TECHNOLOGY   (United States)

^c UNIVERSITY AT BUFFALO   (United States)

^d ROSWELL PARK CANCER INSTITUTE   (United States)

^e STONY BROOK UNIVERSITY   (United States)

^f VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RETINOIC ACID INDUCIBLE PROTEIN I;

ADOLESCENT; ARTICLE; AUTISM; CHILD; CHROMOSOME DELETION; CLINICAL FEATURE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FEMALE; GENE CONTROL; GENE LOCUS; HUMAN; HYPERACTIVITY; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; MORPHOLOGY; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHIZOPHRENIA; SLEEP DISORDER; SMITH MAGENIS SYNDROME;

ADOLESCENT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DOSAGE; GENETIC DISEASES, INBORN; HUMANS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SCHIZOPHRENIA; SYNDROME;

EID: 77951619153     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.068072     Document Type: Article

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