Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome

Journal of Human Genetics

Volumn 58, Issue 9, 2013, Pages 604-610

  Lee, Beom Hee ^a   Kim, Gu Hwan ^a   Oh, Tae Jeong ^b   Kim, Joo Hyun ^a   Lee, Jin Joo ^a   Choi, Seung Hoon ^a   Lee, Joo Yeon ^a   Kim, Jae Min ^a   Choi, In Hee ^a   Kim, Yoo Mi ^a   Choi, Jin Ho ^a   Yoo, Han Wook ^a  

^a University of Ulsan College of Medicine   (South Korea)

^b Genomictree   (South Korea)

Author keywords

Beckwith Wiedemann syndrome; Imprinting; Pyrosequencing; Silver Russell syndrome

Indexed keywords

ANTHROPOMETRY; ARTICLE; BECKWITH WIEDEMANN SYNDROME; BIRTH; CHROMOSOME 11P; CHROMOSOME 7Q; CLINICAL ARTICLE; DIFFERENTIALLY METHYLATED REGION; FEMALE; FETUS GROWTH; GENETIC ANALYSIS; GENETIC PARAMETERS; HUMAN; MALE; METHYLATION; MICROSATELLITE MARKER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; PYROSEQUENCING; QUANTITATIVE ANALYSIS; SILVER RUSSELL SYNDROME;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 7; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; EPIGENESIS, GENETIC; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PEDIGREE; SILVER-RUSSELL SYNDROME;

EID: 84886658892     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.67     Document Type: Article

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