2021
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome
Mikhael S, Dugar S, Morton M, Chorich LP, Tam KB, Lossie AC, Kim HG, Knight J, Taylor HS, Mukherjee S, Capra JA, Phillips JA, Friez M, Layman LC. Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome. Human Genetics 2021, 140: 667-680. PMID: 33469725, PMCID: PMC9211441, DOI: 10.1007/s00439-020-02239-y.Peer-Reviewed Original ResearchConceptsKüster-Hauser syndromeMouse modelHuman studiesCandidate variantsAgenesis/hypoplasiaMethodsWhole-exome sequencingMayer-RokitanskyCandidate genesCongenital absenceExome sequencingAuditory defectsSanger sequencingPatientsRare variantsSyndromeUterusMRKHVaginaFurther investigationDigenic combinationsPhysiological candidatesGenetic basisSame geneVariant analysisGenes
2004
Genome-Wide Linkage Scan for Loci Predisposing to Social Phobia: Evidence for a Chromosome 16 Risk Locus
Gelernter J, Page GP, Stein MB, Woods SW. Genome-Wide Linkage Scan for Loci Predisposing to Social Phobia: Evidence for a Chromosome 16 Risk Locus. American Journal Of Psychiatry 2004, 161: 59-66. PMID: 14702251, DOI: 10.1176/appi.ajp.161.1.59.Peer-Reviewed Original ResearchConceptsGenome-wide linkage scanLinkage scanChromosome 16LOD scoreGenetic linkage analysisNorepinephrine transporter proteinLinkage genome scanGenomic locationEntire genomeChromosome 16 markersGenome scanMultipoint LOD scoreRisk lociTransporter proteinsGenetic markersLinkage analysisSusceptibility lociChromosome 9Physiological candidatesLocus predisposingLociZlr scoreAmerican pedigreesX softwareD16S415
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply