Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: A technical validation study

Genetics in Medicine

Volumn 15, Issue 4, 2013, Pages 290-298

  Inaba, Yoshimi ^a   Herlihy, Amy S ^a,b   Schwartz, Charles E ^c   Skinner, Cindy ^c   Bui, Quang M ^d   Cobb, Joanna ^d   Shi, Elva Z ^a   Francis, David ^a   Arvaj, Alison ^a   Amor, David J ^a,d   Pope, Kate ^a,d   Wotton, Tiffany ^e   Cohen, Jonathan ^f   Hewitt, Jacqueline K ^a,d   Hagerman, Randi J ^g,h   Metcalfe, Sylvia A ^a,d   Hopper, John L ^d   Loesch, Danuta Z ⁱ   Slater, Howard R ^a,d   Godler, David E ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b Andrology Australia   (Australia)

^c GREENWOOD GENETIC CENTER   (United States)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^f MONASH UNIVERSITY   (Australia)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ LA TROBE UNIVERSITY   (Australia)

Author keywords

FMR1; fragile X syndrome; intron; methylation; newborn screening; sex chromosome aneuploidy

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X RELATED EPIGENETIC ELEMENT 2; UNCLASSIFIED DRUG;

ANEUPLOIDY; ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; FEMALE; FRAGILE X SYNDROME; HUMAN; KARYOTYPING; KLINEFELTER SYNDROME; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; PROTEIN METHYLATION; SALIVA ANALYSIS; SENSITIVITY AND SPECIFICITY; VALIDATION STUDY;

EID: 84875956605     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.134     Document Type: Article

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