2022
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan‐Sencicek A, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Molecular Genetics & Genomic Medicine 2022, 10: e1944. PMID: 35481623, PMCID: PMC9184665, DOI: 10.1002/mgg3.1944.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingLaterality defectsUnique genetic architectureCongenital heart diseaseConsanguineous familyGenetic architectureCausal genesCHD genesGenome analysisHomozygous variantGenetic landscapeGenetic lesionsGenomic alterationsHeart diseaseConsanguineous populationFunction variantsRecessive variantsCHD probandsGenesType of CHDMutation spectrumStructural congenital heart diseaseVariantsCHD subjectsAdditional patients
2021
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly
Kaymakcalan H, Kaya İ, Binici N, Nikerel E, Özbaran B, Aksoy M, Erbilgin S, Özyurt G, Jahan N, Çelik D, Yararbaş K, Yalçınkaya L, Köse S, Durak S, Ercan‐Sencicek A. Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly. Molecular Genetics & Genomic Medicine 2021, 9: e1739. PMID: 34268892, PMCID: PMC8404225, DOI: 10.1002/mgg3.1739.Peer-Reviewed Original Research
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