2017
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis
Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. JAMA Dermatology 2017, 153: 537-543. PMID: 28403434, PMCID: PMC5817618, DOI: 10.1001/jamadermatol.2017.0202.Peer-Reviewed Original Research
2014
Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations
Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M. Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations. Pediatric Neurology 2014, 51: 806-813.e8. PMID: 25456301, PMCID: PMC5056964, DOI: 10.1016/j.pediatrneurol.2014.08.025.Peer-Reviewed Original ResearchConceptsBrain malformationsKnobloch syndromeCentral nervous system malformationsExpanding Clinical SpectrumStructural brain abnormalitiesStructural brain malformationsNervous system malformationsHuman cerebral cortexHuman cortical developmentWhole-exome sequencingConfirmatory Sanger sequencingCase seriesClinical presentationCerebral cortexClinical spectrumBrain abnormalitiesOcular abnormalitiesSystem malformationsClinical utilityCortical developmentImmunohistochemical analysisRare diseaseCOL18A1 mutationsBrain developmentPatients
2013
Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO
Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Özduman K, Avşar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yılmaz B, Grady C, Tanrıkulu B, Bakırcıoğlu M, Kaymakçalan H, Caglayan AO, Sencar L, Ceyhun E, Atik AF, Bayri Y, Bai H, Kolb LE, Hebert RM, Omay SB, Mishra-Gorur K, Choi M, Overton JD, Holland EC, Mane S, State MW, Bilgüvar K, Baehring JM, Gutin PH, Piepmeier JM, Vortmeyer A, Brennan CW, Pamir MN, Kılıç T, Lifton RP, Noonan JP, Yasuno K, Günel M. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO. Science 2013, 339: 1077-1080. PMID: 23348505, PMCID: PMC4808587, DOI: 10.1126/science.1233009.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBrain NeoplasmsChromosomes, Human, Pair 22DNA Mutational AnalysisFemaleGenes, Neurofibromatosis 2Genomic InstabilityGenomicsHumansKruppel-Like Factor 4Kruppel-Like Transcription FactorsMaleMeningeal NeoplasmsMeningiomaMiddle AgedMutationNeoplasm GradingProto-Oncogene Proteins c-aktReceptors, G-Protein-CoupledSmoothened ReceptorTumor Necrosis Factor Receptor-Associated Peptides and Proteins
2012
Prenatal Health, Educational Attainment, and Intergenerational Inequality: The Northern Finland Birth Cohort 1966 Study
Härkönen J, Kaymakçalan H, Mäki P, Taanila A. Prenatal Health, Educational Attainment, and Intergenerational Inequality: The Northern Finland Birth Cohort 1966 Study. Demography 2012, 49: 525-552. PMID: 22371210, DOI: 10.1007/s13524-012-0092-1.Peer-Reviewed Original ResearchConceptsEducational attainmentPrenatal healthPrenatal smokingHealth variablesLower educational attainment of childrenEducational attainment of childrenNorthern Finland Birth Cohort 1966 StudyShort-term health outcomesAttainment of childrenMother’s prenatal smokingEffects of healthBirth cohort dataLower educational attainmentUnmarried mothersIntergenerational inequalityIntergenerational processesAssociated with lower levelsEarly healthBackground inequalitiesHealth outcomesParenting classesCohort dataEducational inequalitiesHealth measuresHealth
2009
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, Mahoney MJ, Li P. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature. American Journal Of Medical Genetics Part A 2009, 149A: 2788-2794. PMID: 19921640, PMCID: PMC2788106, DOI: 10.1002/ajmg.a.33088.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceRobin sequenceVariable clinical presentationFurther genotype-phenotype correlationsMb deletionGenotype-phenotype correlationSecond patientClinical presentationCardiac anomaliesNewborn periodArray comparative genomic hybridization analysisComparative genomic hybridization analysisCardiac abnormalitiesPaternal genetic factorsGenomic hybridization analysisFamilial variantPatientsPregnant femalesGenetic factorsDistal duplicationVariable expressionVariable expressivityDistal long armGenomic findingsDisability
2006
Epidemiology of superficial mycosis (tinea pedis, onychomycosis) in elementary school children in Istanbul, Turkey.
Hapcioglu B, Yegenoglu Y, Disci R, Erturan Z, Kaymakcalan H. Epidemiology of superficial mycosis (tinea pedis, onychomycosis) in elementary school children in Istanbul, Turkey. Collegium Antropologicum 2006, 30: 119-24. PMID: 16617585.Peer-Reviewed Original ResearchConceptsPrevalence of tinea pedisTinea pedisTrichophyton rubrumOnychomycosis prevalenceCandida glabrataCandida albicansSuperficial mycosisDirect microscopyOnychomycosisCandidaTineaMale childrenAged 6PrevalenceIsolated agentsPedisNail samplesAgeSchool ageChildrenSchool childrenSkin scrapingsGlabrataChildren of elementary school ageAlbicans