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 ... -
Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation
Ersoy, Melike; Abali, Zehra Yavas; Papatya Cakir, Esra Deniz; Erdin, Soner; Yararbas, Kanay; Abali, Saygin (Walter De Gruyter Gmbh, 2025)Objectives Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited metabolic disorder caused by ACSF3 variants leading to malonyl-CoA synthetase (MCS) deficiency. Despite its well-defined genetic basis, the ... -
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 ... -
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases
Celik, Merve Yoldas; Koseci, Burcu; Burgac, Ezgi; Yararbas, Kanay (Elsevier, 2025)GM2 activator deficiency (AB variant of GM2 gangliosidosis) is an ultra-rare autosomal recessive lysosomal storage disorder caused by pathogenic GM2A mutations. The loss of a functional GM2 activator protein disrupts GM2 ... -
<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 ...
