18042646Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber GThe Journal of clinical endocrinology and metabolismCodon, Nonsense; Congenital Hypothyroidism; Goiter; Membrane ProteinsAlleles; Amino Acid Sequence; Base Sequence; Female; Gene Silencing; Humans; Infant, Newborn; Molecular Sequence Data; PedigreeBiallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab. 2008 Feb; 93(2):605-10.J Clin Endocrinol Metab2007-11-27T00:00:002007Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.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 nameOrganizationPersonD000483Genes & Molecular Sequences29311270.757194AllelesD000595Genes & Molecular Sequences43920620.7368Amino Acid SequenceD001483Chemicals & DrugsGenes & Molecular Sequences48123290.731399Base SequenceD006042Disorders13430.979305GoiterD003409Disorders12790.923533Congenital HypothyroidismD007231Living Beings50923690.641593Infant, NewbornD008565Chemicals & Drugs37111940.607129Membrane ProteinsD008969Concepts & IdeasGenes & Molecular Sequences56030290.690324Molecular Sequence DataD010375Concepts & Ideas1929660.837406PedigreeAuthorship 335899D005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052Humans0.08058180.08058181authors10.2513has subject areaD018389Chemicals & DrugsPhysiology33410.973553Codon, NonsenseD020868Physiology1191720.929737Gene SilencingUniversity of ChicagoSamuelRefetoffSamuel Refetoff41.78927490000000-87.60125000000000116Refetoff, SamuelEmeritus/Emeritatrue1Emeritus/EmeritaEmeritus/EmeritaMedicine-Endocrinology