Search Results - "Tuncbilek, E"

Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families by Simsek-Kiper, P O, Utine, G E, Volkan-Salanci, B, Alanay, Y, Aktaş, D, Alikaşifoğlu, M, Boduroğlu, K, Tuncbilek, E

“…This study explored the social factors affecting prenatal decision making, the impact of genetic counseling on prenatal decision making, and how genetic…”
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Tumour necrosis factor α G→A −238 and G→A −308 polymorphisms in juvenile idiopathic arthritis by Ozen, S., Alikasifoglu, M., Bakkaloglu, A., Duzova, A., Jarosova, K., Nemcova, D., Besbas, N., Vencovsky, J., Tuncbilek, E.

“…Objectives. To study G→A −238 and G→A −308 polymorphisms in the promoter region of the tumour necrosis factor (TNF) α gene in patients with juvenile idiopathic…”
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Benefit of high-dose methylprednisolone in comparison with conventional-dose prednisolone during remission induction therapy in childhood acute lymphoblastic leukemia for long-term follow-up by YETGIN, S, TUNCER, M. A, ÖZYUREK, E, OLCAY, L, ATAHAN, L, TUNCBILEK, E, GÜRGEY, A, CETIN, M, GÜMRÜK, F, YENICESU, I, TUNC, B, ÖNER, A. F, TOKSOY, H, KOC, A, ASLAN, D

“…Eight-year event-free survival (EFS) was evaluated in 205 patients with acute lymphoblastic leukemia (ALL), to consider the efficacy of high-dose…”
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Distal partial trisomy 1q: report of two cases and a review of the literature by Utine, G. E., Aktas, D., Alanay, Y., Gücer, S., Tuncbilek, E., Mrasek, K., Liehr, T.

“…We report on two cases with partial trisomy 1q syndrome. One case was a mid‐trimester fetus with multiple malformations that was prenatally diagnosed with a de…”
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CYP1A1 gene polymorphism and risk of endometrial hyperplasia and endometrial carcinoma by Esinler, I, Aktas, D, Alikasifoglu, M, Tuncbilek, E, Ayhan, A

“…The cytochrome P4501A1 (CYP1A1) is involved in the metabolism of environmental carcinogens and estrogen. We hypothesized that CYP1A1 genetic polymorphism may…”
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Thermolabile methylenetetrahydrofolate reductase enzyme genotype is frequent in type 2 diabetic patients with normal fasting homocysteine levels by TUTUNCU, N. B., ERBAS, T., ALIKASIFOGLU, M., TUNCBILEK, E.

“… Objective.  To investigate the plasma homocysteine concentrations with regard to nutritional, metabolic and genetic factors and to find out the frequency and…”
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Methylene tetrahydrofolate reductase genotype and the risk and extent of coronary artery disease in a population with low plasma folate by Tokgözoğlu, S L, Alikaşifoğlu, M, Ünsal, I˙, Atalar, E, Aytemir, K, Özer, N, Övünç, K, Usal, Ö, Kes, S, Tunçbilek, E

“…OBJECTIVE To determine the effects of the thermolabile methylene tetrahydrofolate reductase (MTHFR) mutation on the presence and extent of coronary…”
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Opinions of Turkish physicians towards termination of pregnancy for fetal disorders by Utine, G E, Kiper, P O, Salanci, B V, Alanay, Y, Aktaş, D, Alikaşifoğlu, M, Boduroğlu, K, Tunçbilek, E

“…Termination of pregnancy (ToP) raises ethical dilemmas. Although ToP for fetal disorders is commonly approved by health professionals, their opinions and…”
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Implications of certain genetic polymorphisms in scarring in vesicoureteric reflux: Importance of ace polymorphism by Ozen, Seza, Alikasifoglu, Mehmet, Saatci, Umit, Bakkaloglu, Aysin, Besbas, Nesrin, Kara, Nazli, Kocak, Hulusi, Erbas, Belkis, Unsal, Ibrahim, Tuncbilek, Ergul

“…Polymorphisms of the renin-angiotensin system (RAS) have been shown to affect renal prognosis in a number of diseases. We examined the influence of deletion…”
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Evaluation of Children with Myelodysplastic Syndrome: Importance of Extramedullary Disease as a Presenting Symptom by Hiçsönmez, Gönül, Çetin, Mualla, Yenicesu, Idil, Olcay, Lale, Koç, Ahmet, Aktas, Dilek, Tunçbilek, Ergül, Tuncer, Murat

“…Thirty-three children diagnosed with primary myelodysplastic syndrome (MDS) in a single institution over an 8 year period were evaluated with special emphasis…”
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Kabuki syndrome and trisomy 10p by Utine, G E, Alanay, Y, Atkaş, D, Boduroğlu, K, Alikaşifoğlu, M, Tunçbilek, E

“…Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause. There is multisystem involvement of…”
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Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient by Utine, G E, Aktas, D, Boduroğlu, K, Alikasifoğlu, M, Tunçbilek, E

“…Fragile X syndrome (FXS) is a well-recognized mental retardation syndrome with characteristic facial features and behavioural phenotype. Monosomy 21 is a rare…”
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Clinical outcomes of consanguineous marriages in Turkey by Tunçbilek, E

“…Turkey has a high rate of consanguineous marriages. Different nationwide surveys indicate that today 20-25% of marriages are consanguineous, with the rate…”
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Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients by Aktas, D, Gultekin, M, Kabacam, S, Alikasifoglu, M, Turan, A.T, Tulunay, G, Kose, M.F, Ortac, F, Yüce, K, Tunçbilek, E, Ayhan, A

“…Abstract Objective The aim of this study was to evaluate the prevalence and spectrum of a known founder mutation, 5382insC and large genomic rearrangements…”
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Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia by Tekin, M, Öztürkmen Akay, H, Fitoz, S, Birnbaum, S, Cengiz, FB, Sennaroğlu, L, İncesulu, A, Yüksel Konuk, EB, Hasanefendioğlu Bayrak, A, Şentürk, S, Cebeci, İ, Ütine, GE, Tunçbilek, E, Nance, WE, Duman, D

“…Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness…”
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Polymorphisms in angiotensin converting enzyme gene and reflux nephropathy: a genetic predisposition to scar formation? by Ozen, S, Alikasifoglu, M, Tuncbilek, E, Bakkaloglu, A, Besbas, N, Aran, B, Saatci, U

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677→CT mutation on the methylenetetrahydrofolate reductase gene is not a risk factor for neural tube defects in Turkey by BODUROGLU, KORAY, ALIKASIFOGLU, MEHMET, ANAR, BURCU, TUNCBILEK, ERGUL

“…E ditor -Recent studies have shown that periconceptual folic acid supplementation reduces a woman's risk of having a baby with neural tube defects (NTD)…”
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Indicators of Nutritional Status in Turkish Preschool Children: results of Turkish Demographic and Health Survey 1993 by TUNCBILEK, E, ÜNALAN, T, COSKUN, T

“…The Turkish Demographic and Health Survey (TDH conducted in 1993, provided data on the magnitude of malnutrition in a sample of 3152 preschool children from…”
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Polymorphisms in angiotensin converting enzyme gene and reflux nephropathy: a genetic predisposition to scar formation? by Ozen, S., Alikasifoglu, M., Tuncbilek, E., Bakkaloglu, A., Besbas, N., Aran, B., Saatci, U.

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Chromosomal mosaicism in a pregnant woman treated with acyclovir for herpes simplex encephalitis by Aktas, D, Tuncbilek, E, Onderoglu, L

“…At 17th week of pregnancy, a 28-year-old woman was diagnosed as having herpes simplex encephalitis and treated with intravenous acyclovir. Follow-up by the…”
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