Genotype-phenotype correlation in 22q11.2 deletion syndrome

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Michaelovsky, Elena ^a   Frisch, Amos ^a,d   Carmel, Miri ^a   Patya, Miriam ^a   Zarchi, Omer ^a,b   Green, Tamar ^a,b,c   Basel Vanagaite, Lina ^a,d   Weizman, Abraham ^a,e   Gothelf, Doron ^a,b  

^a TEL AVIV UNIVERSITY   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

^c BEER YAAKOV MENTAL HEALTH CENTER   (Israel)

^d RABIN MEDICAL CENTER   (Israel)

^e GEHA MENTAL HEALTH CENTER   (Israel)

Author keywords

Copy number variation (CNV); Molecular diagnosis; Multiplex ligation probe amplification (MLPA); Neuropsychiatric disorders; Velocardiofacial syndrome (VCFS)

Indexed keywords

ADOLESCENT; ARTICLE; CARDIOVASCULAR MALFORMATION; CHROMOSOME DELETION 22Q11; CLINICAL ASSESSMENT; CLINICAL EVALUATION; COHORT ANALYSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOCALCEMIA; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; COHORT STUDIES; DIGEORGE SYNDROME; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEMIZYGOTE; HUMANS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; YOUNG ADULT;

EID: 84870985438     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-122     Document Type: Article

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