16804041Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff SThe Journal of clinical endocrinology and metabolismMosaicism; Thyroid Hormone Receptors beta; Thyroid Hormone Resistance SyndromeAdult; Base Sequence; DNA; Female; Humans; Male; Pedigree; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; Thyrotropin; Thyroxine; TriiodothyronineMosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 Sep; 91(9):3471-7.J Clin Endocrinol Metab2006-06-27T00:00:002006Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.prns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000328Living Beings1578255590.25441AdultD001483Chemicals & DrugsGenes & Molecular Sequences48023270.731245Base SequenceD004247Chemicals & Drugs36012910.64289DNAD009030Physiology39670.965374MosaicismAuthorship 299083D010375Concepts & Ideas1919650.837281PedigreeAuthorship 299096Authorship 299077D005260Physiology1991443590.191185FemaleD012150Physiology551470.972362Polymorphism, Restriction Fragment LengthD006801Living Beings2259861020.130196HumansD014284Chemicals & Drugs353390.861369TriiodothyronineD008297Physiology1930408340.201577MaleD013972Chemicals & Drugs402800.903844ThyrotropinD013974Chemicals & Drugs413440.86128ThyroxineD017422Procedures3058520.760188Sequence Analysis, DNAD018382Disorders91160.912344Thyroid Hormone Resistance Syndrome0.2926490.07316223authors10.2517has subject areaD016133Procedures3549270.826328Polymerase Chain ReactionD037042Chemicals & Drugs8810.9456Thyroid Hormone Receptors betaD020641Genes & Molecular Sequences32223470.535442Polymorphism, Single NucleotideMedicineUniversity of ChicagoSamuelRefetoffSamuel Refetoff41.78927490000000-87.60125000000000116Refetoff, SamuelEmeritus/EmeritaRoy EmanuelWeissRoy Emanuel Weiss41.78927490000000-87.601250000000002395Weiss, Roy EmanuelEmeritus/Emerita, ProfessorAlexandra M.DumitrescuAlexandra M. Dumitrescu41.78927490000000-87.60125000000000782Dumitrescu, Alexandra M.Associate Professortrue1Emeritus/Emerita, ProfessorEmeritus/Emerita, Professortrue1Associate ProfessorAssociate Professortrue1Emeritus/EmeritaEmeritus/EmeritaMedicine-Endocrinology