2014
A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B
Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, Lifton RP, Mani A. A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B. New England Journal Of Medicine 2014, 370: 1909-1919. PMID: 24827035, PMCID: PMC4069260, DOI: 10.1056/nejmoa1301824.Peer-Reviewed Original ResearchConceptsKinase-like domainMapping susceptibility genesHistidine 90Disease-causing genesFunctional characterizationDisease genesDYRK1BKey gluconeogenic enzymesGenetic analysisCardiovascular risk traitsWhole-exome sequencingDistinct familiesLinkage analysisSecond mutationPosition 102Susceptibility genesFamily membersLarge familyGenesCausative mutationsUnaffected family membersMutationsFunction activityAffected family membersGluconeogenic enzymes
1987
Severity of Tourette's Syndrome in One Large Kindred: Implication for Determination of Disease Prevalence Rate
Kurlan R, Behr J, Medved L, Shoulson I, Pauls D, Kidd K. Severity of Tourette's Syndrome in One Large Kindred: Implication for Determination of Disease Prevalence Rate. JAMA Neurology 1987, 44: 268-269. PMID: 3469941, DOI: 10.1001/archneur.1987.00520150024013.Peer-Reviewed Original ResearchConceptsChronic motor ticsPrevalence ratesTourette syndromeSeverity of illnessAccurate prevalence ratesDisease prevalence ratesAutosomal dominant transmissionMotor ticsTic disordersVocal ticsMedical attentionStandardized questionnaireMedical careSyndromeLarge MennoniteApparent autosomal dominant transmissionDominant transmissionFamily membersSeverityMost casesIllnessCare
1986
Familial Tourette's syndrome: report of a large pedigree and potential for linkage analysis.
Kurlan R, Behr J, Medved L, Shoulson I, Pauls D, Kidd J, Kidd K. Familial Tourette's syndrome: report of a large pedigree and potential for linkage analysis. Neurology 1986, 36: 772-6. PMID: 3458031, DOI: 10.1212/wnl.36.6.772.Peer-Reviewed Original ResearchConceptsChronic motor ticsTourette syndromeDefinite Tourette's syndromePermanent lymphoblastoid cell linesDSM-III criteriaAutosomal dominant patternFamily membersClinical featuresMotor ticsVocal ticsLymphoblastoid cell linesStandardized questionnaireLarge MennoniteCell linesSyndromeDominant patternIndependent ratings
1984
Some Environmental Factors and Hypotheses for Stuttering in Families with Several Stutterers
Cox N, Seider R, Kidd K. Some Environmental Factors and Hypotheses for Stuttering in Families with Several Stutterers. Journal Of Speech Language And Hearing Research 1984, 27: 543-548. PMID: 6521460, DOI: 10.1044/jshr.2704.543.Peer-Reviewed Original Research
1981
Familial Pattern and Transmission of Gilles de la Tourette Syndrome and Multiple Tics
Pauls D, Cohen D, Heimbuch R, Detlor J, Kidd K. Familial Pattern and Transmission of Gilles de la Tourette Syndrome and Multiple Tics. JAMA Psychiatry 1981, 38: 1091-1093. PMID: 6945827, DOI: 10.1001/archpsyc.1981.01780350025002.Peer-Reviewed Original Research