Early detection of fragile X syndrome: Applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots

Clinical Chemistry

Volumn 60, Issue 7, 2014, Pages 963-973

  Inaba, Yoshimi ^a   Schwartz, Charles E ^b   Bui, Quang M ^c   Li, Xin ^a   Skinner, Cindy ^b   Field, Michael ^d   Wotton, Tiffany ^e   Hagerman, Randi J ^f,g   Francis, David ^a   Amor, David J ^a,c   Hopper, John L ^c   Loesch, Danuta Z ^h   Bretherton, Lesley ^a,c,i   Slater, Howard R ^a,c   Godler, David E ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b GREENWOOD GENETIC CENTER   (United States)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d Genetics of Learning Disability Service   (Australia)

^e CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h LA TROBE UNIVERSITY   (Australia)

ⁱ UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; CPG ISLAND; DIAGNOSTIC TEST ACCURACY STUDY; DNA METHYLATION; FEMALE; FRAGILE X SYNDROME; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NEWBORN; NEWBORN SCREENING; PREDICTIVE VALUE; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SOUTHERN BLOTTING; VENOUS BLOOD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; COGNITION; COHORT STUDIES; DRIED BLOOD SPOT TESTING; EARLY DIAGNOSIS; EPIGENESIS, GENETIC; FEMALE; FRAGILE X SYNDROME; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; MALE; METHYLATION; MIDDLE AGED; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 84903731689     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2013.217331     Document Type: Article

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