2013
Genetic Susceptibility in Tourette Syndrome
Fernandez T, State M. Genetic Susceptibility in Tourette Syndrome. 2013, 137-155. DOI: 10.1093/med/9780199796267.003.0007.ChaptersRare copy number variantsCopy number variantsAssociation studiesGenome-wide association studiesGenome-wide detectionNumber variantsCommon complex traitsCandidate gene association studiesHuman genetic studiesComplex genetic contributionsRare variant studiesEtiology of TSCausative genetic lociGene association studiesComplex traitsNonparametric linkage analysisGene mappingDeleterious mutationsEarlier segregation analysisGenetic lociHDC genePathway analysisTS familyGenetic studiesLinkage analysis
2008
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nature Genetics 2008, 40: 592-599. PMID: 18391953, PMCID: PMC3766631, DOI: 10.1038/ng.118.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SequenceAmino Acid SubstitutionBlood PressureCohort StudiesFemaleHeterozygoteHumansHypertensionKidneyMaleMiddle AgedMolecular Sequence DataMutationPotassium Channels, Inwardly RectifyingPrevalenceReceptors, DrugSodium ChlorideSodium-Potassium-Chloride SymportersSolute Carrier Family 12, Member 1Solute Carrier Family 12, Member 3SymportersConceptsIndependent mutationsCommon complex traitsCommon complex diseasesRare recessive diseaseBlood pressure variationComparative genomicsGenetic architectureComplex traitsFramingham Heart StudyTrait lociEffects of allelesRare allelesSignificant blood pressure reductionComplex diseasesBlood pressure reductionCommon variantsDevelopment of hypertensionMutationsAllelesGenesBlood pressureRisk allelesRenal saltRecessive diseaseGeneral population
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply