Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes

European Journal of Medical Genetics

Volumn 50, Issue 1, 2007, Pages 11-20

  Camprubí, Cristina ^a   Coll, Maria Dolors ^a   Villatoro, Sergi ^b   Gabau, Elisabeth ^c   Kamli, Amine ^a   Martínez, Maria Jesus ^d   Poyatos, David ^a   Guitart, Miriam ^b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b UDIAT   (Spain)

^c HOSPITAL DE SABADELL   (Spain)

^d HOSPITAL DE CRUCES   (Spain)

Author keywords

Imprinting defect; Methylation pattern; Mosaicism; Real time PCR; Southern blot

Indexed keywords

ARTICLE; CHROMOSOME 15; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXTRACHROMOSOMAL INHERITANCE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; HAPPY PUPPET SYNDROME; HUMAN; HYPERACTIVITY; IMPRINTING CENTER; IMPRINTING DEFECT; MENTAL DISEASE; METHYLATION; NUCLEOTIDE SEQUENCE; PRADER WILLI SYNDROME; SEQUENCE ANALYSIS; UBE3A GENE; UNIPARENTAL DISOMY;

ADULT; ANGELMAN SYNDROME; BLOTTING, SOUTHERN; CHILD; CHILD, PRESCHOOL; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; MOSAICISM; PHENOTYPE; POLYMERASE CHAIN REACTION; PRADER-WILLI SYNDROME;

EID: 33846251452     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.10.001     Document Type: Article

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