2011
A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome
Rivkees S, Hager K, Hosono S, Wise A, Li P, Rinder H, Gruen J. A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome. Obstetrical & Gynecological Survey 2011, 66: 421-422. DOI: 10.1097/ogx.0b013e3182338c32.Peer-Reviewed Original ResearchTurner syndromeKaryotype testingSingle nucleotide polymorphismsShort statureGrowth hormone therapyClear clinical evidenceFinal adult heightYears of ageDelay of interventionNormal adult statureSteroid therapyDetection of individualsHormone therapyClinical evidenceControl subjectsSubset of cellsClinical usefulnessEarly diagnosisLive birthsDiagnostic criteriaDelay onsetGrowth hormoneHeterozygous rangeLate onsetPubertal development
2010
A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome
Rivkees SA, Hager K, Hosono S, Wise A, Li P, Rinder HM, Gruen JR. A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: 699-705. PMID: 21177792, PMCID: PMC3047225, DOI: 10.1210/jc.2010-1554.Peer-Reviewed Original ResearchConceptsX chromosomeInformative single nucleotide polymorphism (SNP) markersSingle nucleotide polymorphism (SNP) markersHigh-throughput assaysPolymorphism markersSingle nucleotide polymorphismsY chromosome materialRAS valuesBuccal swab DNAX chromosome abnormalitiesHigh-throughput testChromosomal mosaicismTurner syndromeDNAMarkersFemalesTS benefitSpecificityT detectionKaryotypeHomozygosityPolymorphismMosaicismAssaysLarge-scale studies