Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome

Cleft Palate-Craniofacial Journal

Volumn 43, Issue 4, 2006, Pages 435-441

  Driscoll, Deborah A ^a,b   Boland, Torrey ^b   Emanuel, Beverly S ^b   Kirschner, Richard E ^b   LaRossa, Don ^b   Manson, Jeanne ^b   McDonald McGinn, Donna ^b   Randall, Peter ^b   Solot, Cynthia ^b   Zackai, Elaine ^b   Mitchell, Laura E ^c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

Author keywords

Chromosome 22q11.2 deletion; Genes; Genotype; Palate; Penetrance; Phenotype

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYSTATHIONINE BETA SYNTHASE; FOLIC ACID; GENOMIC DNA; METHIONINE SYNTHASE; METHIONINE SYNTHASE REDUCTASE; TRANSFORMING GROWTH FACTOR ALPHA; TRANSFORMING GROWTH FACTOR BETA3;

ALLELE; ARTICLE; CHI SQUARE TEST; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CONFIDENCE INTERVAL; CONTROLLED STUDY; FEMALE; FISHER EXACT TEST; FLUORESCENCE IN SITU HYBRIDIZATION; GENDER; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; PALATE MALFORMATION; PALATOPHARYNGEAL INCOMPETENCE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; RACE DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; VELOCARDIOFACIAL SYNDROME;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; CHI-SQUARE DISTRIBUTION; CHILD; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; CYSTATHIONINE BETA-SYNTHASE; ETHNIC GROUPS; FEMALE; FERREDOXIN-NADP REDUCTASE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); PALATE, HARD; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEX FACTORS; SYNDROME; VELOPHARYNGEAL INSUFFICIENCY;

EID: 33746301094     PISSN: 10556656     EISSN: None     Source Type: Journal    
DOI: 10.1597/05-070R.1     Document Type: Article

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