12369018Beltr?n-Valero de Bernab? D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HGAmerican journal of human geneticsAbnormalities, Multiple; MannosyltransferasesBrain; Child, Preschool; Chromosome Mapping; Cytoskeletal Proteins; DNA Mutational Analysis; Dystroglycans; Eye Abnormalities; Female; Fetal Death; Glycosylation; Humans; Immunohistochemistry; Infant; Male; Membrane Glycoproteins; Molecular Sequence Data; Pedigree; Sequence Analysis, DNAMutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov; 71(5):1033-43.Am J Hum Genet2002-10-04T00:00:002002Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.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 nameOrganizationPersonD000015Disorders842320.867835Abnormalities, MultipleD001921Anatomy49222110.472349BrainD002874Procedures22910740.772759Chromosome MappingD002675Living Beings65236080.594942Child, PreschoolD004252Procedures2265260.864587DNA Mutational AnalysisD005124Disorders14410.973632Eye AbnormalitiesD006031Phenomena691290.954193GlycosylationD007223Living Beings60430360.61304InfantD008562Chemicals & Drugs1894280.823137Membrane GlycoproteinsD008364Chemicals & Drugs460.993676MannosyltransferasesD007150Procedures48817520.715464ImmunohistochemistryD008969Concepts & IdeasGenes & Molecular Sequences56030290.690324Molecular Sequence DataD010375Concepts & Ideas1929660.837406PedigreeD005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052HumansWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201617MaleD017422Procedures3068530.760396Sequence Analysis, DNAD049030Chemicals & Drugs9150.990556DystroglycansD003598Chemicals & Drugs962220.894713Cytoskeletal ProteinsD005313Disorders29560.987237Fetal DeathHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 7616480.05640170.05640171authors10.2520has subject area