Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR

European Journal of Human Genetics

Volumn 13, Issue 4, 2005, Pages 475-485

  Wu, Qingfa ^a,b   Niebuhr, Erik ^a   Yang, Huanming ^b   Hansen, Lars ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b INSTITUTE OF GEOLOGY AND GEOPHYSICS   (China)

Author keywords

Cat like cry critical region; Cri du chat (CDC); Quantitative PCR; Ubiquitin conjugated enzyme E2

Indexed keywords

CELL CYCLE PROTEIN; DNA DIRECTED DNA POLYMERASE; DNA DIRECTED DNA POLYMERASE SIGMA; DROSOPHILA PROTEIN; NUCLEOLAR PROTEIN; REGULATOR PROTEIN; RNA POLYMERASE II; STEROID 5ALPHA REDUCTASE; TRANSCRIPTION FACTOR; UBIQUITIN CONJUGATING ENZYME; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CAT CRY SYNDROME; CHROMOSOME 5P; CHROMOSOME BREAKAGE; CHROMOSOME DELETION 5; CHROMOSOME DISORDER; CHROMOSOME MAP; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC VALUE; EPICANTHUS; EXON; EXPRESSED SEQUENCE TAG; GENE EXPRESSION PROFILING; GENETIC ANALYSIS; HOUSEKEEPING GENE; HUMAN; HYPERTELORISM; MENTAL DEFICIENCY; MICROCEPHALY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCALP; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; THORAX;

ANIMALS; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 5; CRI-DU-CHAT SYNDROME; CRICETINAE; HUMANS; HYBRID CELLS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MENTAL RETARDATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE TAGGED SITES;

FELIS CATUS;

EID: 17144365495     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201345     Document Type: Article

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