Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH

European Journal of Medical Genetics

Volumn 50, Issue 5, 2007, Pages 386-391

  Yilmaz, Saliha ^a   Fontaine, Hervé ^a   Brochet, Karène ^a   Grégoire, Marie José ^a   Devignes, Marie Dominique ^b   Schaff, Jean Luc ^a   Philippe, Christophe ^a   Nemos, Christophe ^a   McGregor, John Louis ^c   Jonveaux, Philippe ^a  

^a UNIVERSITY HOSPITAL OF NANCY   (France)

^b LORIA   (France)

^c HÔPITAL LARIBOISIÈRE   (France)

Author keywords

Aicardi syndrome; Array CGH; X chromosome

Indexed keywords

ADOLESCENT; ADULT; AICARDI SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; HUMAN; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHOROID; CHROMOSOMES, HUMAN, X; CONTRACTILE PROTEINS; CORPUS CALLOSUM; DEVELOPMENTAL DISABILITIES; DNA PRIMERS; FEMALE; GENE DOSAGE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; MICROFILAMENT PROTEINS; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; RETINA; SPASMS, INFANTILE; SYNDROME;

EID: 34548791215     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.05.006     Document Type: Article

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