MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

European Journal of Human Genetics

Volumn 16, Issue 5, 2008, Pages 565-571

  Priolo, Manuela ^a   Sparago, Angela ^b   Mammì, Corrado ^a   Cerrato, Flavia ^b   Laganà, Carmelo ^a   Riccio, Andrea ^b,c  

^a BIANCHI MELACRINO MORELLI HOSPITAL   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME NUMBER; CONTROLLED STUDY; COST CONTROL; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DNA METHYLATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOME IMPRINTING; HUMAN; MAJOR CLINICAL STUDY; METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION ASSAY; MOLECULAR GENETICS; PRIORITY JOURNAL; RELIABILITY; SENSITIVITY AND SPECIFICITY; SILVER RUSSELL SYNDROME;

ABNORMALITIES, MULTIPLE; BECKWITH-WIEDEMANN SYNDROME; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; GENOMIC IMPRINTING; HUMANS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 42649101672     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5202001     Document Type: Article

References (16)

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