2017
Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome
Wu W, Geng Q, Liu Y, Xu Z, Li P, Xie J. Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. Fetal And Pediatric Pathology 2017, 36: 432-436. PMID: 29206494, DOI: 10.1080/15513815.2017.1332120.Peer-Reviewed Original ResearchConceptsAndrogen insensitivity syndromeComplete androgen insensitivity syndromeAR gene mutationsInsensitivity syndromeGene mutationsTwin fetusesCases of AISPrenatal diagnosisSubsequent twin pregnancyNovel mutationsAndrogen receptor geneTwin pregnanciesRecessive genetic disorderBilateral testesSuccessful prenatal diagnosisFemale external genitaliaFetusesAR geneSyndromeSyndrome familiesDiagnosisExternal genitaliaReceptor geneGenetic disordersMutation analysis
1992
Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status
Quigley C, Friedman K, Johnson A, Lafreniere R, Silverman L, Lubahn D, Brown T, Wilson E, Willard H, French F. Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. The Journal Of Clinical Endocrinology & Metabolism 1992, 74: 927-933. DOI: 10.1210/jc.74.4.927.Peer-Reviewed Original ResearchAR geneNull phenotypeCDNA probeSouthern blot analysis of genomic DNADensitometric analysis of Southern blotsAnalysis of Southern blotsDetermination of carrier statusAnalysis of genomic DNAX-linked DNA polymorphismsAndrogen insensitivityControl cDNA probesHindIII restriction fragment length polymorphismGene dosage studiesCarrier statusRestriction fragment length polymorphismSouthern blot analysisFragment length polymorphismComplete androgen insensitivityPolymerase chain reaction amplificationAndrogen insensitivity syndromePattern of inheritanceAndrogen receptorUnrelated genesDNA polymorphismsOriginal mutation
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