Kurum Yazarı "Ayaz, Akif" TR-Dizin İndeksli Yayınlar Koleksiyonu İçin Listeleme
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A case of recombinant chromosome 4: Further delineation of the clinical features
Anlaş, Özlem; Çetin, Gökhan Ozan; Yararbaş, Kanay; Düzcan, Füsun; Semerci Gündüz, Cavidan Nur; Ayaz, Akif; Bağcı, Gülseren (Pamukkale University, 2020)Recombinant chromosome 4 is a very rare chromosomal aberration with eighteen cases reported in the literature up to date. Here we report a five years old male patient with de novo rec(4) dup(4p) del(4q). The physical ... -
Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis
Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Kıykım, Ayça; Çakır, Deniz; Kılıç, Betül; Aydın, Kürşad; Ayaz, Akif; Telhan, Leyla; Anak, Sema (AVES, 2022)Objectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis ... -
COVID-19 pozitif hastalarda SARS-CoV-2 varyantlarının prevalansı
Aydoğan, Okan; Gözün Şaylan, Ezgi; Güven, Özlem; Ayaz, Akif; Yiğitbaşı, Türkan (DOC Design and Informatics Co. Ltd., 2022)Amaç: Dünya Sağlık Örgütü (DSÖ) tarafından alfa (B.1.1.7), beta (B.1.351), gamma (P.1), delta (B.1.617.2) ve omic - ron (B.1.1.529) endişe verici varyantlar (“variants of concern – VOCs”) olarak sınıflandırılmıştır. ... -
Genetic and clinical profiling of mendelian susceptibility to mycobacterial disease patients; singlecenter experience
Nepesov, Serdar; Fırtına, Sinem; Aygün, Fatma Deniz; Işıkgil, Betül; Çamcıoğlu, Yıldız; Kıykım, Ayça; Yücel, Esra; Kendir Demirkol, Yasemin; Ayaz, Akif (Istanbul University, 2022)Objective: Mendelian susceptibility to mycobacterial disease (MSMD) is a subgroup of primary immunodeficiencies which develops with the Bacille Calmette–Guérin (BCG) vaccine or non-tuberculous mycobacterial infections. The ... -
How to manage low estriol levels in pregnancies, one center experience
Yılmaz Güleç, Elif; Gezdirici, Alper; Ayaz, Akif; Öztürk, Fatma Nihal; Polat, İbrahim (Galenos Publishing House, 2022)Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. Although X-linked ... -
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 ... -
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) ... -
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 ...