A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

European Journal of Human Genetics

Volumn 9, Issue 5, 2001, Pages 319-327

  Colleaux, Laurence ^a   Rio, Marlène ^a   Heuertz, Solange ^a   Moindrault, Séverine ^b   Turleau, Catherine ^a   Ozilou, Catherine ^a   Gosset, Philippe ^a   Raoult, Odile ^a   Lyonnet, Stanislas ^a   Cormier Daire, Valérie ^a   Amiel, Jeanne ^a   Le Merrer, Martine ^a   Picq, Monique ^a   De Blois, Marie Christine ^a   Prieur, Marguerite ^a   Romana, Serge ^a   Cornelis, François ^b   Vekemans, Michel ^a   Munnich, Arnold ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Automated genotyping; Chromosome rearrangement; Mental retardation; Telomere; Uniparental disomy

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CHILD; CHILDHOOD; CHROMOSOME 10Q; CHROMOSOME 16Q; CHROMOSOME 17Q; CHROMOSOME 6Q; CHROMOSOME TRANSLOCATION 10; CHROMOSOME TRANSLOCATION 6; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; CYTOGENETICS; DIAGNOSTIC TEST; FAMILY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC MARKER; GENETIC SCREENING; GENOTYPE; HUMAN; IDIOPATHIC DISEASE; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; TELOMERE; UNIPARENTAL DISOMY;

CHILD; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 6; CYTOGENETIC ANALYSIS; FEMALE; GENE REARRANGEMENT; GENETIC MARKERS; GENETIC SCREENING; GENOTYPE; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; MONOSOMY; PEDIGREE; TELOMERE; TRANSLOCATION, GENETIC;

EID: 0034985199     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200591     Document Type: Article

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