Search Results - "Ahmet Cevdet Ceylan"

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel by Arslan, Elif Acar, Öncel, İbrahim, Ceylan, Ahmet Cevdet, Topçu, Meral, Topaloğlu, Haluk

“…The purpose of this prospective study was to identify the characteristics of pediatric recessive ataxias and the mutations leading to them. Eighty-four…”
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Novel mutations with clinical variability and surgical experience in van der woude syndrome by Ahmet Cevdet Ceylan, Figen Ozgur, Ibrahim Vargel

“…Introduction: Van der Woude syndrome (VWS) is characterized by cleft palate, cleft lip, and lower-lip pits. Interferon regulatory factor 6 (IRF6) gene…”
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Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort by Ceylan, Ahmet Cevdet, Çavdarlı, Büşranur, Ceylan, Gülay Güleç, Topçu, Vehap, Satılmış, S. Betül Arslan, Bektaş, Şerife Gökbulut, Kalem, Ayşe K., Kayaaslan, Bircan, Eser, Fatma, Kalkan, Emra Asfuroğlu, İnan, Osman, Hasanoğlu, İmran, Yüksel, Selcen, Ateş, İhsan, İzdeş, Seval, Güner, Rahmet, Gündüz, C. Nur Semerci

“…The pandemic coronavirus disease 2019 (COVID-19) has caused a high mortality rate and poses a significant threat to the population. The disease may progress…”
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Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders by Ceylan, Ahmet Cevdet, Citli, Senol, Erdem, Haktan Bagis, Sahin, Ibrahim, Acar Arslan, Elif, Erdogan, Murat

“…Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal…”
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A special association between Charcot-Marie-Tooth type 1A disease and relapsing remitting multiple sclerosis by Doğan, Yahya, Gül, Şule, Ceylan, Ahmet Cevdet, Kutsal, Yeşim Gökçe

“…•CNS involvement has been reported in different subtypes of CMT diseases.•Our patient is one of the rare and remarkable cases with CMT1A and MS.•Tremor,…”
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The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports by Aydın, Emine, Ceylan, Ahmet Cevdet, Beksaç, Mehmet Sinan

“…5, 10-methylenetetrahydrofolate reductase (MTHFR) is a coding gene, for a key enzyme in methionine-homocysteine and folate metabolism. This pathway has been…”
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Determinación de los polimorfismos rs2058265, rs6464214 y rs7456421 de la proteína cinasa 2 que interactúan con el homeodominio en pacientes con cálculos renales by Ceylan, Cavit, Gokhan-Doluoglu, Omer, TaÓtemur, Sedat, KeleÓ, Ibrahim, Ceylan, Gulay, Cevdet-Ceylan, Ahmet, Uzun, Emre, Tokat, Eda

“…Objetivo: Investigar si el polimorfismo de la proteína cinasa 2 que interactúa con el homeodominio (HIPK2) está asociado con la formación de cálculos renales…”
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Investigation of sub‐chromosomal changes in males with idiopathic azoospermia by chromosomal microarray analysis by Çitli, Şenol, Ceylan, Ahmet Cevdet, Erdemir, Fikret

“…Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of…”
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The Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication by Kocaay, Pinar, Ceylan, Ahmet Cevdet, Tepe, Derya

“…Copy number variation (CNV) is a kind of malfunction of DNA polymerase to produce extra genetic material which leads to more number of repeats in genes. The…”
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Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort by Gülşen, Murat, Ceylan, Ahmet Cevdet, Bahsi, Taha, Çubukçu, Hikmet Can, Dursun, Onur Burak

“…•Quantitative Real-Time Polymerase Chain Reaction validated against MLPA for Spinal Muscular Atrophy screening.•Analysis showed high accuracy of qRT-PCR…”
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High Expression of Stem Cell-Related Genes in Polyps with Villous Features and High-Grade Dysplasia Support Malignant Phenotype and Colorectal Carcinogenesis by Sahin, Ibrahim, Gündoğdu, Betül, Ceylan, Ahmet Cevdet, Erdem, Haktan Bagis, Tatar, Abdulgani

“…The aim of this project is to identify the differences in expression levels of stem cell related genes (SCRGs) in normal colon tissue, histopathologically…”
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A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene by Esen, Tuna Eren, Uzun, Özlem Ünal, Ceylan, Ahmet Cevdet

“…Introduction: Biallelic variants in the SCL35D1 gene have been originally associated with a severe skeletal dysplasia called “Schneckenbecken dysplasia”…”
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c.4168GA by Yildiz, M. Irem, Alp, Anil, Ozer, Suzan, Ceylan, Ahmet Cevdet, Eroglu, Elcin Ozcelik, Demir, Basaran

“…Schizophrenia has a multifactorial etiology with a significant genetic component. Genome-wide association studies have identified common variants in candidate…”
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Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome by Surucu Kara, Ilknur, Oncul, Ummuhan, Kose, Engin, Turan, Husnu Mutlu, Ceylan, Ahmet Cevdet, Eminoglu, Fatma Tuba

“…Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type…”
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A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report by Ateş, Burcu Berberoğlu, Ceylan, Ahmet Cevdet, Hızal, Gülin, Duran, Fatih, Doğan, Hayriye Tatlı, Hızlı, Şamil

“…Background. Benign recurrent intrahepatic cholestasis (BRIC) is a rare cause of cholestasis with recurrent episodes of jaundice and pruritus without…”
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SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the “2+0” genotype by Ceylan, Ahmet Cevdet, Erdem, Haktan Bağış, Şahin, İbrahim, Agarwal, Meenal

“…Introduction Spinal muscular atrophy (SMA) is one of the common autosomal recessive disorders with global heterozygous carrier frequency of 1:50. Due to high…”
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Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency by Yılmaz, Begüm, Ceylan, Ahmet Cevdet, Gündüz, Mehmet, Ünal Uzun, Özlem, Küçükcongar Yavaş, Aynur, Bilginer Gürbüz, Berrak, Öncül, Ümmühan, Güleç Ceylan, Gülay, Kasapkara, Çiğdem Seher

“…Biotinidase deficiency (BD) is an autosomal recessive inherited metabolic disorder which results from the inability of biotin-dependent carboxylase enzymes to…”
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Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature by Ceylan, Ahmet Cevdet, Acar Arslan, Elif, Erdem, Haktan Bağış, Kavus, Haluk, Arslan, Mutluay, Topaloğlu, Haluk

“…Autosomal recessive cerebellar ataxias (ARCA) are characterized by the abnormal structure of the cerebellum and spinal cord. Spinocerebellar ataxia type 18…”
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c.4168GA Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review by Alp, Anil, Eroglu, Elcin Ozcelik, Yildiz, M. Irem, Ceylan, Ahmet Cevdet, Demir, Basaran, Ozer, Suzan

“…Schizophrenia has a multifactorial etiology with a significant genetic component. Genome-wide association studies have identified common variants in candidate…”
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High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy by Çavdarlı, Büşranur, Köken, Özlem Yayici, Satılmış, Saide Betül Arslan, Bilen, Şule, Ardıçlı, Didem, Ceylan, Ahmet Cevdet, Gündüz, Cavidan Nur Semerci, Topaloğlu, Haluk

“…Muscular dystrophies are a heterogeneous group of neuromuscular disorders with a wide range of the clinical and genetic spectrum. Whole‐exome sequencing (WES)…”
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