2021
Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)
KAYMAKCALAN H, Hande A, CAGLAYAN A, GULBAHAR O, GOKMEN E, NIKEREL E. Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE). Marmara Medical Journal 2021, 34: 274-278. DOI: 10.5472/marumj.1009115.Peer-Reviewed Original ResearchWhole-exome sequencingExome sequencingHereditary angioedemaU-HAEGenetic alterationsDownstream functional analysisMyoF geneNormal C1 inhibitorControl groupBlood coagulation pathwayGenesFunctional analysisNo significant differenceRare diseasePathwayC1 inhibitorMutationsPatientsUnknown causeCoagulation pathwaySequenceSignificant differenceAngioedemaVariantsC1QBP
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