D016368PhysiologyG05.365.590.26534510.98278Frameshift Mutationplugins:FeaturedVideosFeatured Videosprns:emailEncryptedemail addressprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:meshTreeNumberMeSH tree numberprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:pluginSearchableDataProfilesRNS Plugin Searchable Dataprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierDepartmentvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonBernardStraussBernard S. Strauss41.7886000000000087.598699999999993480Strauss, BernardEmeritus/Emerita, ProfessorPediatrics-EndocrinologyWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR 16464943Wu SY, Cohen RN, Simsek E, Senses DA, Yar NE, Grasberger H, Noel J, Refetoff S, Weiss REThe Journal of clinical endocrinology and metabolismA novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 May; 91(5):1887-95.J Clin Endocrinol Metab2006-02-07T00:00:002006A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone.16947003Mannavola D, Vannucchi G, Fugazzola L, Cirello V, Campi I, Radetti G, Persani L, Refetoff S, Beck-Peccoz PJournal of molecular medicine (Berlin, Germany)TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berl). 2006 Oct; 84(10):864-71.J Mol Med (Berl)2006-09-01T00:00:002006TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.0.476830.0096809834research area of0.4851840.02786350subject area forhttp://monogenicdiabetes.uchicago.eduMonogenic Diabetes Registryhttps://dnatesting.uchicago.edu/Genetic Services Laboratory https://kovlerdiabetescenter.orgKovler Diabetes Center24138066Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SAPediatric diabetesMicrocephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes. 2014 May; 15(3):252-6.Pediatr Diabetes2013-10-21T00:00:002013Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.https://genes.uchicago.edu/people/our-facultyDepartment of Human Genetics Human GeneticsMedicineMol Gen/Cell BioUniversity of ChicagoDanielaDel GaudioDaniela Del Gaudio41.78927490000000-87.601250000000001768Del Gaudio, DanielaProfessorRoy EmanuelWeissRoy Emanuel Weiss41.78927490000000-87.601250000000002395Weiss, Roy EmanuelEmeritus/Emerita, ProfessorSiri Atma W.GreeleyxGV7DqQZHPX5hHlsaUXv9Gq0+s+oSiri Atma W. Greeley41.78927490000000-87.60125000000000587Greeley, Siri Atma W.Associate Professortrue1ProfessorProfessortrue1PROFESSOR PROFESSOR true1Emeritus/Emerita, ProfessorEmeritus/Emerita, Professortrue1Emeritus/Emerita, ProfessorEmeritus/Emerita, Professortrue1Associate ProfessorAssociate Professor17460281Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OSInvestigative ophthalmology & visual scienceHomozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci. 2007 May; 48(5):2208-13.Invest Ophthalmol Vis Sci2007-05-01T00:00:002007Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.18326913Jian ZF, Tang FQ, Chen FP, Xie QZ, Wang GPZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences[Novel frame-shift mutation of 540 A deletion in GP IIb gene from a patient with Glanzmann thrombasthenia]. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008 Feb; 33(2):165-8.Zhong Nan Da Xue Xue Bao Yi Xue Ban2008-02-01T00:00:002008[Novel frame-shift mutation of 540 A deletion in GP IIb gene from a patient with Glanzmann thrombasthenia].