Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2386-2396

  Mikhail, Fady M ^a,c   Lose, Edward J ^a   Robin, Nathaniel H ^a,b   Descartes, Maria D ^a,b   Rutledge, Katherine D ^a   Rutledge, S Lane ^a,b   Korf, Bruce R ^a   Carroll, Andrew J ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b University of Alabama at Birmingham   (United States)

^c ALEXANDRIA UNIVERSITY   (Egypt)

Author keywords

Array CGH; Autism; CNV; Developmental delay; Mental retardation; Neurodevelopmental disorders

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; CAMAT1 GENE; CHILD; CHRNA7 GENE; CHROMOSOME 14Q; CHROMOSOME 15Q; CHROMOSOME 16P; CHROMOSOME 1P; CHROMOSOME 2P; CHROMOSOME 5Q; CHROMOSOME 7Q; CHROMOSOME XP; CLINICAL ARTICLE; CNTNAP2 GENE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; HUMAN; HUMAN CELL; IL1RAPL1 GENE; LEARNING DISORDER; LRFN5 GENE; MALE; MEF2C GENE; MENTAL DEFICIENCY; NFIA GENE; OCCUPATIONAL THERAPY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RBFOX1 GENE; SCHOOL CHILD; SPEECH DISORDER; SPEECH THERAPY;

ADOLESCENT; ADULT; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; GENE DELETION; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; NEUROGENESIS; PHENOTYPE; RNA SPLICING; SYNAPSES; SYNAPTIC TRANSMISSION; TRANSCRIPTION FACTORS;

EID: 80053106248     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34177     Document Type: Article

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