Search Results - "Karabulut,Halil Gürhan"

Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment by Kaymak Cihan, Meriç, Karabulut, Halil Gürhan, Yürür Kutlay, Nüket, Ilgın Ruhi, Hatice, Tükün, Ajlan, Olcay, Lale

“…Glucocorticoids (GCs) are the key drugs for the treatment of pediatric acute lymphoblastic leukemia (ALL). Herein, investigation of the relationship between…”
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Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia by Durmaz, Ceren Damla, Karabulut, Halil Gürhan, Saka, Meram Can, Sucularlı, Ceren, Gümüş Akay, Güvem, Atbaşoğlu, Cem, Ilgın Ruhi, Hatice

“…encodes Dexamethasone-induced Ras-related protein 1 (Dexras1), a protein with a critical role in signal transduction in neurons. There is a strong suspicion…”
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Type I plasminogen deficiency with unexpected clinical aspects: Could be more than coexistence? by Altıner, Şule, Klammt, Jürgen, Bernhard, Matthias K., Schuster, Volker, Karabulut, Halil Gürhan

“…Type I plasminogen deficiency is a rare autosomal recessive systemic disorder. It usually starts in infancy and is clinically characterized by chronic mucosal…”
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The Frequency of A1298C and C677T Polymorphisms of the Methylentetrahydrofolate Gene in Turkish Patients with Rheumatoid Arthritis: Relationship with Methotrexate Toxicity by Taşbaş, Ozgür, Borman, Pınar, Gürhan Karabulut, Halil, Tükün, Ajlan, Yorgancıoğlu, Rezan

“…The C677T and A1298C polymorphisms of methylenetatrahydrofolate reductase (MTHFR) gene are reported to have a relationship to methotrexate (MTX) metabolism,…”
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De novo germline TP53 mutation in a pediatric patient with Li–Fraumeni syndrome and diffuse peritoneal mesothelioma by Ortaköylü, Melek Yaman, Özdemir, Sonay İncesoy, Dinçaslan, Handan, Taçyıldız, Nurdan, Ateş, Ufuk, Ünal, Ali Ekrem, Soydal, Çiğdem, Fitoz, Ömer Suat, Karabulut, Halil Gürhan, Ruhi, Hatice Ilgın, Ünal, Emel Cabi

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Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency by Durmaz, Ceren Damla, Altıner, Şule, Taşdelen, Elifcan, Karabulut, Halil Gürhan, Ruhi, Hatice Ilgın

“…The 17q22 contiguous microdeletion syndrome is a recently described chromosomal disorder. Clinical features are heterogeneous because of variable deletion…”
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Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS) by Gökpınar İli, Ezgi, Taşdelen, Elifcan, Durmaz, Ceren Damla, Altıner, Şule, Tuncalı, Timur, Martinez‐Glez, Victor, Karabulut, Halil Gürhan, Vural, Seçil, Ceylaner, Serdar, Acar, Mustafa Oğuz, Ilgın Ruhi, Hatice

“…Somatic and germline PI3K‐AKT‐mTOR pathway pathogenic variants are involved in several segmental overgrowth phenotypes such as the PIK3CA‐related overgrowth…”
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Molecular Testing for Thalassemia: Mutation Detection According to Referral Reasons and Demographic Data by Altıner, Şule, Karabulut, Halil Gürhan, Ekinci, Sadiye, Vicdan, Arzu, Kutlay, Nüket, Tuncalı, Timur, Ajlan Tükün, Ruhi, Hatice Ilgın

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Association Between N363S and Bcl/Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment by Cihan, Meriç Kaymak, Karabulut, Halil Gürhan, Kutlay, Nüket Yürür, Ruhi, Hatice Ilgın, Tükün, Ajlan, Olcay, Lale

“…[...]they give rise to severe side effects, which also show individual variation. [...]in this study we focused on individual genetic differences that may lead…”
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Alpha-1 Antitrypsin Levels and Polymorphisms in Interstitial Lung Diseases by Demir, Nalan, Erçen Diken, Özlem, Karabulut, Halil Gürhan, Karnak, Demet, Kayacan, Oya

“…Alpha-1 antitrypsin deficiency may be a potential predisposing factor for interstitial lung fibrosis. We investigated alpha-1 antitrypsin levels and its…”
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Expression of Survivin and Its Splice Variants in Pediatric Acute Lymphoblastic Leukemia by Eren-Keleş, Efsun, Karabulut, Halil Gürhan, Çakmaklı, Hasan Fatih, Adaklı, Başak, Köse, Serdar Kenan, Uğur-Dinçaslan, Handan, Yavuz, Gülsan, Ertem, Mehmet, Tükün, Ajlan

“…Survivin is involved in the inhibition of apoptosis and the regulation of cell division. In addition to wild-type survivin (survivin-wt), at least four splice…”
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O-16 Never too late : Delayed diagnosis of Prader-Willi syndrome by Baş Aksu, Özge, Canpolat, Asena Gökçay, Leblebici, Can Berk, Karabulut, Halil Gürhan, Çorapçıoğlu, Demet

“…Abstract Introduction Prader-Willi syndrome (PWS) is the leading inherited cause of severe childhood obesity. The aim of this case report is to describe a case…”
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Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature by Delil, Kenan, Karabulut, Halil Gürhan, Hacıhamdioğlu, Bülent, Şıklar, Zeynep, Berberoğlu, Merih, Öçal, Gönül, Tükün, Ajlan, Ruhi, Hatice Ilgın

“…The frequency of mutations in the short stature homeobox (SHOX) gene in patients with idiopathic short stature (ISS) ranges widely, depending mostly on the…”
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Endothelial nitric oxide synthase gene intron 4 polymorphism predicts new onset diabetes mellitus after transplantation in kidney allograft recipients treated with cyclosporin A by Ergün, Ihsan, Keven, Kenan, Sengül, Sule, Karabulut, Halil Gürhan, Kurultak, Ilhan, Soypacaci, Zeki, Erbay, Bülent

“…Background Nitric oxide (NO), synthesized from ls -arginine by the enzyme endothelial nitric oxide synthase (eNOS), is a potent vasodilator and has been…”
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Factor V Leiden and prothrombin gene G20210A mutations in ocular Behçet disease by Batioğlu, Figen, Atmaca, Leyla S., Karabulut, Halil Gürhan, Beyza Sayin, Derya

“… Purpose:  To investigate genetic prothrombotic factors (factor V Leiden and prothrombin gene G20210A mutations) and their relation with retinal vascular…”
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DNA methyltransferase expression differs with proliferation in childhood acute lymphoblastic leukemia by Sayin, Derya Beyza, Kürekçi, Emin, Karabulut, Halil Gürhan, Ezer, Üstün, Bökesoy, Isik

“…DNA methylation is involved in genomic imprinting, tissue and stage specic gene regulation, X chromosome inactivation and especially necessary in normal…”
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome by White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., Carvalho, Claudia M.B.

“…Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal…”
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Y-STR polymorphism in Central Anatolian Region of Turkey by Rustamov, Aydın, Gümüş, Güvem, Karabulut, Halil Gürhan, Elhan, Atilla Halil, Kadıkıran, Ahmet, Bökesoy, Işık

“…Eight Y-chromosome specific STR (Y-STR) loci including DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393 were investigated in a group of…”
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Akut miyeloid lösemide kromozomal anomaliler: Tek merkezden 417 olgunun sitogenetik sonuçları by Akalın,İbrahim, Karabulut,Halil Gürhan, Yürür Kutlay,Nüket, Ilgın Ruhi,Hatice, Tükün,Fatma Ajlan, Sağlam,Burcu, Tuncalı,Timur, Vicdan,Nedime Arzu, Sadeghi,Faika

“…Amaç: Lösemi hastalarının tanısında ve izleminde sitogenetik belirteçlerin önemli rolü vardır. Lösemiler içinde akut miyelositer lösemi (AML) hastalarında,…”
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Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development by Topcu, Vehap, Ilgin-Ruhi, Hatice, Siklar, Zeynep, Karabulut, Halil Gurhan, Berberoglu, Merih, Hacihamdioglu, Bulent, Savas-Erdeve, Senay, Aycan, Zehra, Peltek-Kendirci, Havva Nur, Ocal, Gonul, Tukun, Fatma Ajlan

“…Androgen receptor (AR) gene mutations are the leading cause of 46,XY disorders of sex development (DSD) and are associated with varying degrees of androgen…”
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