Yazar "Seyhan, Serhat" için listeleme
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The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population
Danacıoğlu, Yavuz Onur; Yenice, Mustafa Gürkan; Akkaş, Fatih; Soytaş, Mustafa; Seyhan, Serhat; Taşcı, Ali İhsan (2021)Objective: Advances in the science of genet- ics and the development of assisted reproductive techniques focus on the genetic causes of infer- tility. The aim of this research is to reveal genetic abnormalities in terms ... -
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation
Aksu Uzunhan, Tuğçe; Çakar, Nafiye Emel; Seyhan, Serhat; Aydın, Kürşad (Elsevier, 2020)Background: Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions ... -
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 ... -
Molecular heterogeneity in cystic fibrosis
Ayyıldız Civan, Hasret; Seyhan, Serhat (Georg Thieme Verlag KG, 2020)We aimed to evaluate type, frequency, and variety of pathogenic variants according to clinical and demographic features of children diagnosed with cystic fibrosis (CF). Twenty-five CF patients were evaluated retrospectively. ... -
Optical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis
Dikkaya, Funda; Seyhan, Serhat; Karaman Erdur, Sevil; Şentürk, Fevzi; Aras, Cengiz (Taylor and Francis Inc., 2020)Background: Leber congenital amaurosis (LCA) is both genetically and phenotypically heterogeneous group of retinal disorder. Mutations in retinal degeneration 3 (RD3) have been reported as an infrequent cause of LCA which ... -
Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 gene
Çakar, Nafiye Emel; Seyhan, Serhat (ASEAN Neurological Association, 2020)Nonketotic hyperglycinemia (NKH) is caused by defects in the glycine cleavage system. Hyperglycinemia without biallelic mutations in one of the 4 genes that encode the constituents of the glycine cleavage system is classified ...