Search Results - "Guney, Ilter"

Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations by Ateş, Esra Arslan, Üstay, Özlem, Polat, Hamza, Apaydın, Tuğçe, Elbasan, Onur, Yıldırım, Özlem, Güney, Ahmet İlter

“…Maturity-onset diabetes of the young (MODY) is a rare monogenic type of diabetes, and accounts for 2-5% of all diabetes cases. An early age of onset, a family…”
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Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations by Arslan Ateş, Esra, Alavanda, Ceren, Demir, Şenol, Keklikkıran, Çağlayan, Attaallah, Wafi, Özdoğan, Osman Cavit, Güney, Ahmet İlter

“…Familial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancerprone disorders characterized by hundreds of…”
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miR-34a-FOXP1 Loop in Ovarian Cancer by Dirimtekin, Esra, Mortoglou, Maria, Alavanda, Ceren, Benomar Yemlahi, Asmaa, Arslan Ates, Esra, Guney, Ilter, Uysal-Onganer, Pinar

“…Ovarian cancer (OC) is the main cause of gynecological cancer mortality in most developed countries. microRNA (miR) expression dysregulation has been…”
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BRCA Mutations and MicroRNA Expression Patterns in the Peripheral Blood of Breast Cancer Patients by Alavanda, Ceren, Dirimtekin, Esra, Mortoglou, Maria, Arslan Ates, Esra, Guney, Ahmet Ilter, Uysal-Onganer, Pinar

“…Breast cancer (BC) persists as the predominant malignancy globally, standing as the foremost cause of cancer-related mortality among women. Despite notable…”
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Detection of mitochondrial DNA mutations in nonmuscle invasive bladder cancer by Guney, Ahmet Ilter, Ergec, Deniz Sevinc, Tavukcu, Hasan Huseyin, Koc, Gulsah, Kirac, Deniz, Ulucan, Korkut, Javadova, Dilara, Turkeri, Levent

“…Mitochondrial DNA (mtDNA) mutations have been recently described in various tumors; however, data focusing on bladder cancer are scarce. To understand the…”
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A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient by Arslan Ateş, Esra, Türkyılmaz, Ayberk, Eltan, Sevgi Bilgiç, Barış, Safa, Güney, Ahmet Ilter

“…Abstract Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive ataxia, choreoathetosis and immunodeficiency beginning in…”
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Effect of alpha-actinin-3 gene on trained and untrained Turkish middle-school children’s sprinting performance: a pilot study by Ulucan, Korkut, Bayyurt, Gizem Merve, Konuk, Muhsin, Güney, Ahmet Ilter

“…ACTN3 R577X polymorphism was evaluated in trained and untrained Turkish middle-school children’s sprinting performance. Twenty trained and 30 untrained…”
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The effect of polymorphic metabolism enzymes on serum phenytoin level by Ozkaynakci, Aydan, Gulcebi, Medine Idrizoglu, Ergeç, Deniz, Ulucan, Korkut, Uzan, Mustafa, Ozkara, Cigdem, Guney, Ilter, Onat, Filiz Yilmaz

“…Phenytoin has a widespread use in epilepsy treatment and is mainly metabolized by hepatic cytochrome P450 enzymes (CYP). We have investigated CYP2C9*2,…”
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Genetic diagnosis in infertile men with numerical and constitutional sperm abnormalities by Cinar, Ciğdem, Yazici, Cenk, Ergünsu, Sebnem, Beyazyürek, Cağri, Javadova, Dilara, Sağlam, Yaman, Tarcan, Tufan, Güney, Ahmet Ilter

“…Infertile men having numerical or structural sperm defects may carry several genetic abnormalities (karyotype abnormalities, Y chromosome microdeletions,…”
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New candidate chromosomal regions for chordoma development by Bayrakli, Fatih, MD, Guney, Ilter, MD, Kilic, Turker, MD, PhD, Ozek, Memet, MD, Pamir, Mustafa Necmettin, MD

“…Abstract Background Chordomas are rare, slow growing, infiltrative tumors thought to arise from vestigial or ectopic notochord. Chordoma can occur along the…”
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MTHFR , prothrombin and Factor V gene variants in Turkish patients with coronary artery stenosis by Caner, Müge, Bircan, Rifat, Sevinç, Deniz, Benli, Fehime, Güney, A. Ilter, Kurtoglu, Nuri

“…Many epidemiological studies have reported an association between hemostatic factors and risk of both coronary and peripheral artery diseases. Using polymerase…”
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Autosomal Recessive Idiopathic Epilepsy in an Inbred Family from Turkey: Identification of a Putative Locus on Chromosome 9q32‐33 by Baykan, Betül, Madia, Francesca, Bebek, Nerses, Gianotti, Stefania, Güney, Ahmet Ilter, Cine, Naci, Bianchi, Amedeo, Gökyiğit, Ayşen, Zara, Federico

“…Purpose: The study describes the clinical features of an inbred family from Turkey with three members affected by seizures and tests possible autosomal…”
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A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group by Bayrakli, Fatih, Guney, Ilter, Bayri, Yasar, Ercan-Sencicek, Adife Gulhan, Ceyhan, Dogan, Cankaya, Tufan, Mason, Christopher, Bilguvar, Kaya, Bayrakli, Sengul, Mane, Shrikant M, State, Matthew W, Gunel, Murat

“…Abstract Paired box gene 6 ( PAX6) is the causative gene of aniridia. It is a dominantly inherited eye abnormality characterized by partial or complete absence…”
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Lack of SCN1A Mutations in Familial Febrile Seizures by Malacarne, Michela, Madia, Francesca, Gennaro, Elena, Vacca, Daniela, Güney, A. Ilter, Buono, Salvatore, Bernardina, Bernardo Dalla, Gaggero, Roberto, Gobbi, Giuseppe, Lispi, Maria Luisa, Malamaci, Daniela, Melideo, Giustino, Roccella, Maurizio, Sferro, Caterina, Tiberti, Alessandra, Vanadia, Francesca, Vigevano, Federico, Viri, Franco, Vitali, Maria Rosa, Bricarelli, Franca Dagna, Bianchi, Amedeo, Zara, Federico

“…Purpose: Mutations in the voltage‐gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized…”
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Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients by ARSLAN ATES, Esra, TURKYILMAZ, Ayberk, ALAVANDA, Ceren, YILDIRIM, Ozlem, GUNEY, Ahmet Ilter

“…ObjectiveHereditary cancer syndromes (HCSs) are a heterogenous group of disorders caused by germline pathogenic variations in various genes that function in…”
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Evaluation of 5-HTTLPR Gene Polymorphism and Resilience Components on the Development of Psychopathology in Adolescent Sexual Abuse Cases by Çarkaxhiu Bulut, Gresa, Rodopman Arman, Ayşe, Güney, İlter, Gültepe, Pınar

“…More than one-fourth adolescents are exposed to unexpected frightening experiences and traumas until adulthood. In this study, we aimed to determine the…”
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Effects of MC4R, FTO, and NMB gene variants to obesity, physical activity, and eating behavior phenotypes by Kirac, Deniz, Kasimay Cakir, Ozgur, Avcilar, Tuba, Deyneli, Oguzhan, Kurtel, Hizir, Yazici, Dilek, Kaspar, Elif Cigdem, Celik, Nurgul, Guney, Ahmet Ilter

“…Summary Obesity is a major contributory factor of morbidity and mortality. It has been suggested that biological systems may be involved in the tendency to be…”
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A patient with hypopituitarism and isochromosome 18q mosaicism by Turan, Serap, Saka, Nurcin, Guney, Ilter, Bereket, Abdullah

“…Patients with isochromosome 18 [i(18q)] have features of both trisomy 18 and deletion of 18p [del(18p)] syndromes. Although, hypopituitarism has been reported…”
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The Frequency and the Effects of 21‐Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients by Kirac, Deniz, Guney, Ahmet Ilter, Akcay, Teoman, Guran, Tulay, Ulucan, Korkut, Turan, Serap, Ergec, Deniz, Koc, Gulsah, Eren, Fatih, Kaspar, Elif Cigdem, Bereket, Abdullah

“…Summary Congenital adrenal hyperplasia (CAH) is a group of genetic endocrine disorders, caused by enzyme deficiencies in the conversion of cholesterol to…”
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Investigation of the association between mitochondrial DNA and p53 gene mutations in transitional cell carcinoma of the bladder by Avcilar, Tuba, Kirac, Deniz, Ergec, Deniz, Koc, Gulsah, Ulucan, Korkut, Kaya, Zehra, Kaspar, Elif Cigdem, Turkeri, Levent, Guney, Ahmet Ilter

“…Bladder carcinoma is the most common malignancy of the urinary tract. The major aim of the present study is to investigate the association between…”
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