Developmental perspectives on copy number abnormalities of the 22q11.2 region

Clinical Genetics

Volumn 78, Issue 3, 2010, Pages 201-218

  Tan, T Y ^a,b   Gordon, C T ^a   Amor, D J ^a,b   Farlie, P G ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Chromosomal; Copy number variation; Microarray; Microdeletion; Microduplication

Indexed keywords

CRK LIKE PROTEIN; DNA; ENDOTHELIN 1; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; PROTEIN; PROTEIN TBX1; UNCLASSIFIED DRUG; VASCULOTROPIN;

CAT EYE SYNDROME; CHROMOSOME 16; CHROMOSOME 22; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MARKER; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; EYE MALFORMATION; FALLOT TETRALOGY; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENETIC VARIABILITY; GOLDENHAR SYNDROME; HUMAN; MICROARRAY ANALYSIS; MISSENSE MUTATION; MORPHOGENESIS; NONHUMAN; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; ANIMALS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 22; CRANIOFACIAL ABNORMALITIES; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; MUTATION; SYNDROME; T-BOX DOMAIN PROTEINS;

EID: 77955838340     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01456.x     Document Type: Review

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