PCR-based methylation testing for Prader-Willi or Angelman syndromes using archived fixed-cell suspensions

Genetic Testing

Volumn 5, Issue 2, 2001, Pages 153-155

  Velinov, M ^a,b   Gu, H ^a   Shah, K ^a   Genovese, M ^a   Duncan, C ^a   Jenkins, E C ^a   Kupchik, G ^b  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b MAIMONIDES MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETIC ACID; DNA; METHANOL;

ARTICLE; CELL SUSPENSION; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOGENETICS; DIAGNOSTIC PROCEDURE; DNA METHYLATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC ANALYSIS; HAPPY PUPPET SYNDROME; HUMAN; INTERMETHOD COMPARISON; PHENOTYPE; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME;

ANGELMAN SYNDROME; CHROMOSOMES, HUMAN, PAIR 15; CPG ISLANDS; DNA METHYLATION; GENOMIC IMPRINTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; POLYMERASE CHAIN REACTION; PRADER-WILLI SYNDROME; PRESERVATION, BIOLOGICAL; SPECIMEN HANDLING; SUSPENSIONS; TIME FACTORS; TISSUE FIXATION;

EID: 0034875633     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065701753145655     Document Type: Article

References (6)

1. Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee
2. Carrier detection and patient diagnosis of genetic mutations using a mini-gel electrophoresis system
3. UBE3A/E6-AP mutations cause Angelman syndrome
4. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi Syndrome
5. Methylation-specific PCR simplifies imprinting analysis
6. The Feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA