Yazar "Yararbas, Kanay" için listeleme
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Chromosomal breakage and sister chromatid exchange analysis in breast cancer patients with heterozygous BLM gene variants
Yararbas, Kanay; Sayar, Ceyhan; Tavukcu, Cemre; Korkmaz, Taner; Cankaya, Dilara Cakmak; Mutlu, Elif Karabacak; Ozbek, Ugur (Walter De Gruyter Gmbh, 2024)Objectives BLM, a member of the RecQ helicase family, plays an important role in DNA repair, and its biallelic mutations cause autosomal recessive Bloom syndrome, a disease characterized by elevated levels of sister chromatid ... -
Clinical and inflammation marker features of cancer patients with COVID-19: data of Istanbul, Turkey multicenter cancer patients (2020-2022)
Unal, Caglar; Tuncer, Gulsah; Copur, Betul; Pilanci, Kezban Nur; Okutur, Kerem Sadi; Yararbas, Kanay; Alan, Ozkan (Taylor & Francis Ltd, 2023)ObjectiveWe aimed to identify a rapid, accurate, and accessible biomarker in the early stages of COVID-19 that can determine the prognosis of the disease in cancer patients.MethodsA total number of 241 patients with solid ... -
First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1
Kendir-Demirkol, Yasemin; Yeter, Burcu; Yararbas, Kanay (Karger, 2024)Introduction: Griscelli syndrome type 2 (GS2) and neurofibromatosis type 1 (NF1) are both rare genetic disorders, but their coexistence has not been documented prior to this report. Case Presentation: We present the case ... -
<p>Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1</p>
Takahashi, Taiko; Mercan, Sevcan; Sassa, Takayuki; Akcapinar, Gunseli Bayram; Yararbas, Kanay; Susgun, Seda; Akcakaya, Nihan Hande (Elsevier, 2022)Introduction: Next generation sequencing technologies allow detection of very rare pathogenic gene variants and uncover cerebral palsy. Herein, we describe two siblings with cerebral palsy due to ELOVL1 splice site mutation ...
