Redefined genomic architecture in 15q24 directed by patient deletion/ duplication breakpoint mapping

Human Genetics

Volumn 126, Issue 4, 2009, Pages 589-602

  El Hattab, Ayman W ^a   Ou, Zhishuo ^a   Kang, Sung Hae L ^a   Patel, Ankita ^a   Scaglia, Fernando ^a   Lupski, James R ^a   Cheung, Sau Wai ^a   Stankiewicz, Pawel ^a,f   Smolarek, Teresa A ^b   Walker, Martha E ^b   Schorry, Elizabeth K ^b   Immken, LaDonna L ^c   Patel, Gayle ^c   Abbott, Mary Alice ^d   Lanpher, Brendan C ^e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c Clinical Genetics   (United States)

^d BAYSTATE MEDICAL CENTER   (United States)

^e VANDERBILT UNIVERSITY   (United States)

^f INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; ASPERGER SYNDROME; ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD; CHROMOSOME 15Q; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA SEQUENCE; FINGER MALFORMATION; GENE DELETION; GENE DUPLICATION; GENE MAPPING; HOMOLOGOUS RECOMBINATION; HUMAN; JOINT LAXITY; JOINT MOBILITY; KARYOTYPE; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DOSAGE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; PHENOTYPE;

EID: 70350179748     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0706-x     Document Type: Article

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