Browsing by Author "Ayaz, Akif"
Now showing items 21-27 of 27
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Importance of diagnosis in breast cancer with Non-BRCA pathogenic germline variants of cancer susceptibility genes using high-throughput sequencing analysis
Ayaz, Akif; Yalçıntepe, Sinem; Seyhan, Serhat; Gezen, Fazlı Cem (Kare Publishing, 2022)Objectives: The aim was to point out the importance of the diagnosis rate of breast cancer (BC) by analyzing the cancer predisposition genes except BRCA1/2 with multigene testing. Methods: In this study, 232 non-BRCA cases ... -
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia
Ayaz, Akif; Aksu Uzunhan, Tuğçe; Aydın, Kürşad (Elsevier, 2022)Background: Today, it is known that about 80 genes are involved in the etiology of hereditary spastic paraplegia. However, there are many cases whose etiology could not be determined by extensive genetic tests such as ... -
Mutation profile of the patients diagnosed with myeloid neoplasia tested with next generation sequencing and clinical implications
Mutlu, Yaşa Gül; Balık Aydın, Berrin; Ayaz, Akif; Seca, Fatma; Sevindik, Ömür Gökmen (Inonu University Faculty of Medicine, 2022)Aim: To analyze the distribution of gene mutations in myeloid neoplasias, based on next generating sequencing technology (NGS) and evaluate their clinical implications and impact on the risk stratification. Materials and ... -
NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients
Yuluğ, Burak; Ayaz, Akif (Alanya Alaaddin Keykubat University, 2022)Aim: In this study, the relationship between genetic analysis and exome sequencing and clinical and neuroimaging findings of four patients from the same family was investigated by analyzing a clinical and genetic (WES) ... -
A pooled RT-PCR testing strategy for more efficient Covid-19 pandemic management
Ayaz, Akif; Öztürk Demir, Aslı Güner; Öztürk, Gürkan; Koçak, Mehmet (Elsevier, 2022)Objectives: RT-PCR testing is indispensable in Covid-19 pandemic management. With the spread of the pandemic with emerging variants, the RT-PCR capacity is overburdened and new strategies and capabilities need to be ... -
Preoperative screening for COVID-19: Results from a clinical diagnostic laboratory
Aydoğan, Okan; Gözün Şaylan, Ezgi; Güven, Özlem; Ayaz, Akif; Yiğitbaşı, Türkan (Istanbul University, 2022)Objective: The study aimed to determine what proportion of Turkiye’s preoperative patient population has tested positive for COVID-19 and to ascertain whether the increasing or decreasing trend in the numbers of positive ... -
Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
Öztürk, Gülten; Ayaz, Akif; Topçu, Yasemin; Akyüz, Gülcan; Ünver, Olcay; Akbeyaz, İsmail; Ekinci, Gazanfer; Türkdoğan, Dilşad (Wolters Kluwer Medknow Publications, 2022)Two patients with the same genetic mutation in ADPRHL2 gene, which takes a role in DNA repair, transcription, telomer function, and apoptosis are presented.[1] Developmental delay, intellectual disability, epilepsy, ...