Search Results - "Güney, Ahmet İlter"

Secondary findings in 622 Turkish clinical exome sequencing data by Arslan Ateş, Esra, Türkyilmaz, Ayberk, Yıldırım, Özlem, Alavanda, Ceren, Polat, Hamza, Demir, Şenol, Çebi, Alper Han, Geçkinli, Bilgen Bilge, Güney, Ahmet İlter, Ata, Pınar, Arman, Ahmet

“…CES (Clinical Exome Sequencing) is a method that we use to diagnose rare diseases with nonspesific clinical features. Besides primary indication for testing…”
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When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus? by Üstay, Özlem, Apaydın, Tuğçe, Elbasan, Onur, Polat, Hamza, Günhan, Gizem, Dinçer, Ceyda, Şeker, Lamia, Ateş, Esra Arslan, Yabacı, Ayşegül, Güney, Ahmet İlter, Yavuz, Dilek Gogas

“…Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2…”
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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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BRCA1 ve BRCA2 mutasyonlarının tespitine yönelik yeni nesil dizileme temelli kit geliştirilmesi ve rutinde kullanılan yöntemler ile valide edilmesi by Girgin Özgümüş,Gözde, Güney,Ahmet İlter

“…Amaç: Meme kanseri, kadınlarda en yaygın görülen kanser türü olup, Göğüs Kanseri Duyarlılık gen (BRCA1 ve BRCA2) mutasyonlarının meme ve yumurtalık…”
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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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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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Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency by Turkyilmaz, Ayberk, Alavanda, Ceren, Ates, Esra Arslan, Geckinli, Bilgen Bilge, Polat, Hamza, Gokcu, Mehmet, Karakaya, Taner, Cebi, Alper Han, Soylemez, Mehmet Ali, Guney, Ahmet İlter, Ata, Pinar, Arman, Ahmet

“…Purpose Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by the cessation of menstrual cycles before the age of 40 years due to…”
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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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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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Transforming growth factor-β3 intron 5 polymorphism as a screening marker for non-syndromic cleft lip with or without cleft palate by ULUCAN, KORKUT, BAYRAKTAR, NAZLI, PARMAKSIZ, EMINE, AKCAY, ARZU, GÜNEY, AHMET ILTER

“…In this study, we evaluated the effect of transforming growth factor β3 intron 5 position +104 A→G (TGF-β3 IVS5+104AG) transition in patients with a…”
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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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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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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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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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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

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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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The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients: CYP21A2 Gene Defects in CAH 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

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