Browsing by Author "Ayaz, Akif"
Now showing items 1-20 of 24
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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 ... -
Chronic neutropenia in childhood: Laboratory and clinical features
Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Ayaz, Akif; Anak, Sema (Springer India, 2022)Objectives To describe the clinical characteristics of patients with chronic neutropenia. Methods Data of 36 patients with chronic neutropenia, who were followed up in the authors' clinic between May 2013 and May 2020, ... -
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
Aksu Uzunhan, Tuğçe; Ertürk, Biray; Aydın, Kürşad; Ayaz, Akif; Altunoğlu, Umut; Yarar, Murat Hakkı; Gezdirici, Alper; İçağasıoğlu, Dilara Füsun; Gökpınar İli, Ezgi; Uyanık, Bülent; Eser, Metin; Kutbay, Yaşar Bekir; Topçu, Yasemin; Kılıç, Betül; Bektaş, Gonca; Arduç Akçay, Ayfer; Ekici, Barış; Chousein, Amet; Avcı, Şahin; Yüksel, Atıl; Kayserili, Hülya (Elsevier B.V., 2023)Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert ... -
Clinical and laboratory evaluation of children with congenital hyperinsulinism: A single center experience
Gündoğdu, Semra; Çiftci, Mustafa; Atay, Enver; Ayaz, Akif; Ceran, Ömer; Atay, Zeynep (Walter de Gruyter GmbH, 2023)Objectives: To evaluate and present the data regarding clinical, laboratory, radiological and the results of molecular genetic analysis of patients with hyperinsulinemic hypoglycemia in our clinics. Methods: A total of 9 ... -
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
Yılmaz Güleç, Elif; Turgut, Gözde Tutku; Gezdirici, Alper; Karaman, Volkan; Öztürk, Fatma Nihal; Avcı, Şahin; Kalaycı, Tuğba; Şentürk, Leyli; Ayaz, Akif; Kayserili, Hülya; Uyguner, Zehra Oya; Altunoğlu, Umut (Wiley, 2022)Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS/CISS is ... -
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. ... -
Covid-19: Pathogenesis, genetic polymorphism, clinical features and laboratory findings
Öztürk, Recep; Taşova, Yeşim; Ayaz, Akif (TUBITAK Scientific & Technological Research Council of Turkey, 2020)COVID-19 caused by a novel agent SARS-CoV-2 progressed to a pandemic condition and resulted in a major public health concern worldwide, leading to social and economic issues at the same time. The pathogenesis of COVID-19 ... -
Diagnostic value of microarray method in autism spectrum disorder, intellectual disability, and multiple congenital anomalies and some candidate genes for autism: Experience of two centers
Ayaz, Akif; Gezdirici, Alper; Yılmaz Güleç, Elif; Özalp, Özge; Köseoğlu, Abdullah Hüseyin; Doğru, Zeynep; Yalçıntepe, Sinem (Galenos Publishing House, 2022)Objective: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some ... -
Effects of chromosomal translocations on sperm count in azoospermic and oligospermic cases
Ayaz, Akif; Yalçıntepe, Sinem; Özalp, Özge; Yılmaz Güleç, Elif; Gezdirici, Alper; Akçay, Ebru Perim; Köseoğlu, Abdullah Hüseyin (Dokuz Eylül University Institute of Health Sciences, 2022)Purpose: A number of mechanisms have been proposed for the effect of chromosomal translocations on spermatogenesis and sperm maturation. However, there are still numerous ambiguous issues regarding these two processes. The ... -
Evaluation of laboratory findings, clinical features and rates of diagnosis of patients admitted to outpatient clinic of pediatric neurology with neuromuscular manifestations
Aksu Uzunhan, Tuğçe; Ertürk, Biray; Özyavuz Çubuk, Pelin; Uyanık, Bülent; Ayaz, Akif; Akan, Onur; Özdemir, Taha Reşid (Dr. Behcet Uz Pediatric Hospital, 2020)Objective: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics.Methods: ... -
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
Ayaz, Akif; Doğru, Zeynep; Kılıç, Betül; Süzek, Barış Ethem (Elsevier B.V., 2022)Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were ... -
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Marais, Anett; Bertoli-Avella, Aida M.; Beetz, Christian; Altunoğlu, Umut; Alhashem, Amal; Mohamed, Sarar; Alghamdi, Abdulaziz; Willems, Patrick; Tsoutsou, Eirini; Fryssira, Helena; Pons, Roser; Almarzooq, Reem; Yüksel Karatoprak, Elif; Ayaz, Akif; Ünverengil, Gökçen; Calvo, Maria; Yüksel, Zafer; Bauer, Peter (Elsevier Masson s.r.l., 2022)Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with ... -
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Mitani, Tadahiro; Işıkay, Sedat; Gezdirici, Alper; Yılmaz Güleç, Elif; Punetha, Jaya; Fatih, Jawid M.; Herman, Isabella; Akay, Gülşen; Du, Haowei; Calame, Daniel G.; Ayaz, Akif; Tos, Tülay; Yeşil, Gözde; Aydın, Hatip; Geçkinli, Bilgen; Elçioğlu, Nursel; Candan, Şükrü; Sezer, Özlem; Bağış Erdem, Haktan; Gül, Davut; Demiral, Emine; Elmas, Muhsin; Yesilbaş, Osman; Kılıç, Betül; Güngör, Serdal; Ceylan, Ahmet C.; Bozdoğan, Sevcan; Özalp, Özge; Çiçek, Salih; Aslan, Hüseyin; Yalçıntepe, Sinem; Topçu, Vehap; Bayram, Yavuz; Grochowski, Christopher M.; Jolly, Angad; Dawood, Moez; Duan, Ruizhi; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Marafi, Dana; Çoban Akdemir, Zeynep; Karaca, Ender; Carvalho, Claudia M. B.; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; Pehlivan, Davut (Cell Press, 2021)Neurodevelopmental disorders (NDD5) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDD5 is > 3%, resulting in significant ... -
HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia
Bayram, Nihan; Yaman, Yöntem; Elli, Murat; Özdilli, Kürşat; Nepesov, Serdar; Doğan, Mehmet Sait; Ayaz, Akif; Anak, Sema (Wiley, 2022)Background PNPK gene mutations result in DNA repair disorders and have a spectrum of neurodevelopmental manifestations. To date, cancer predisposition has not been described in patients with PNKP mutations. Observation ... -
Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings
Aksu Uzunhan, Tuğçe; Ayaz, Akif (Elsevier B.V., 2022)Neurexins (NRXNs) are cell-adhesion molecules that play critical roles in establishing and maintaining synaptic connections. Humans have three NRXN genes (NRXN1, NRXN2, NRXN3) and heterozygous intragenic microdeletions ... -
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 ... -
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 ...
