Yazar "Yalçıntepe, Sinem" için listeleme
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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 ... -
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 ... -
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 ...