Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

European Journal of Human Genetics

Volumn 21, Issue 10, 2013, Pages 1093-1099

  Le Pichon, Jean Baptiste ^a   Yu, Shihui ^b   Kibiryeva, Nataliya ^a   Graf, William D ^c   Bittel, Douglas C ^a  

^a UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

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

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

15q13.3 deletion; CHRNA7; genome wide microarray; MTMR10; TRPM1

Indexed keywords

BUNGAROTOXIN RECEPTOR; TUMOR NECROSIS FACTOR ALPHA;

ARTICLE; CHROMOSOME 15Q13.3 HETEROZYGOUS MICRODELETION; CHROMOSOME DELETION; COGNITIVE DEFECT; CONTROLLED STUDY; GENE EXPRESSION; HUMAN; LYMPHOBLASTOID CELL; MICROARRAY ANALYSIS; MUSCLE FUNCTION; MUSCLE HYPOTONIA; NERVE CELL PLASTICITY; NERVOUS SYSTEM DEVELOPMENT; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGED; ALPHA7 NICOTINIC ACETYLCHOLINE RECEPTOR; CASE-CONTROL STUDIES; CHILD; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; GENOME, HUMAN; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; PEDIGREE; RNA, MESSENGER; SEIZURES; TRANSCRIPTOME; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84884595346     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.1     Document Type: Article

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