Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Giardino, Daniela ^a   Vignoli, Aglaia ^b   Ballarati, Lucia ^a   Recalcati, Maria P ^a   Russo, Silvia ^a   Camporeale, Nicole ^a   Marchi, Margherita ^a   Finelli, Palma ^a,b   Accorsi, Patrizia ^c   Giordano, Lucio ^c   La Briola, Francesca ^b   Chiesa, Valentina ^b   Canevini, Maria P ^b   Larizza, Lidia ^a,b  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c SPEDALI CIVILI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT;

ADOLESCENT; ADULT; ANTICONVULSANT THERAPY; ARTICLE; BEHAVIOR DISORDER; CHILD; CHROMOSOME 20; CHROMOSOME DISORDER; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DISEASE ASSOCIATION; EPIGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOCAL EPILEPSY; GENE DELETION; GENE EXPRESSION; HETEROZYGOTE; HUMAN; MALE; MICROARRAY ANALYSIS; MOLECULAR MECHANICS; MOLECULAR PROBE; MOSAIC CHROMSOME 20 RING; PRESCHOOL CHILD; SCHOOL CHILD; TANDEM REPEAT; TELOMERE; UNIPARENTAL DISOMY; CASE REPORT; COGNITIVE DEFECT; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENETICS; MIDDLE AGED; MOSAICISM; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; RING CHROMOSOME; SYNDROME;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 20; COGNITION DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; MOSAICISM; PHENOTYPE; RING CHROMOSOMES; SYNDROME; YOUNG ADULT;

EID: 77957729689     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-146     Document Type: Article

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