Search Results - "Aldemir, Ozgur"
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Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in psoriasis in southern Turkey
Published in Anais brasileiros de dermatología (01-09-2016)“…Psoriasis is a multigenic and multifactorial dermatological disease linked to cardiovascular diseases. Increased levels of homocysteine in patients with…”
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The association between methylation levels of targeted genes and albuminuria in patients with early diabetic kidney disease
Published in Renal failure (01-11-2017)“…Objective: The incidence of diabetes and its complications are greatly increasing world-wide. Diabeticnephropathy (DN) is the main cause of end-stage renal…”
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The Spectrum of β-Thalassemia Mutations in Hatay, Turkey: Reporting Three New Mutations
Published in Hemoglobin (01-10-2014)“…Abstract β-Thalassemia (β-thal) is an important health problem in Hatay, Southern Turkey, because of its high carrier frequency and the frequency of…”
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Are low maternal estriol levels a predictor for pro‐opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?
Published in Prenatal diagnosis (01-12-2013)“…ABSTRACT Isolated adrenocorticotropic hormone deficiency is a rare cause of adrenocortical insufficiency, especially in children, and may be an underestimated…”
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Investigation of key miRNAs and target genes in bladder cancer using miRNA profiling and bioinformatic tools
Published in Molecular biology reports (01-12-2014)“…Despite the association of several miRNAs with bladder cancer, little is known about the miRNAs’ regulatory networks. In this study, we aimed to construct…”
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Unbalanced karyotype with X;11 translocation associated with SHOX duplication and 11q partial deletion in a girl with amenorrhea and mild mental retardation detected by array CGH: Case Report
Published in Gene reports (01-09-2016)“…•We keep in mind that a case has got amenorrhea, mental retardation, we should test aCGH analyses to detect X-autosome translocation.•If we find an unbalanced…”
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Urotensin II (U-II), a novel cyclic peptide, possibly associated with the pathophysiology of osteoarthritis
Published in Peptides (New York, N.Y. : 1980) (01-04-2014)“…•As far as we know our study is the first one investigating the relationship between U-II and osteoarthritis.•U-II levels were significantly higher in the…”
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Wiedemann–Rautenstrauch syndrome: Report of a variant case
Published in American journal of medical genetics. Part A (01-06-2012)“…Wiedemann–Rautenstrauch syndrome (WRS) is a rare autosomal recessive disorder that includes premature aging phenotype at birth. The condition is also known as…”
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Malouf Syndrome with Hypergonadotropic Hypogonadism and Cardiomyopathy: Two-Case Report and Literature Review
Published in Case reports in obstetrics and gynecology (01-01-2014)“…Malouf syndrome is a very rarely encountered syndrome which was first diagnosed in 1985 upon the examination of two sisters, with findings of hypergonadotropic…”
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Three patients resembling Teebi-Shaltout syndrome
Published in American journal of medical genetics. Part A (01-10-2013)“…ABSTRACT Teebi–Shaltout syndrome (TSS) was first reported by Teebi and Shaltout in 1989. This entity is proposed to be inherited in autosomal recessive manner…”
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Ring chromosome 9 in a newborn
Published in Genetic counseling (01-01-2013)“…Ring chromosome 9 in a newborn: Ring chromosome 9 is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among…”
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VDR Gene Analysis of Four Patients with Hereditary 1,25 Dihydroxyvitamin D-Resistant Rickets
Published in Journal of clinical research in pediatric endocrinology (01-09-2015)“…We present the VDR gene analysis results of four hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) patients with severe skeletal dysplasia,…”
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Investigation of the Association of Homocysteine and MTHFR Polymorphisms and Treatment Options in Parkinson’s Disease in Central Anatolian Region
Published in Namık Kemal tıp dergisi (01-12-2015)“…AimIn this study, we aimed to investigate the effects of MTHFR C677T and A1298C polymorphisms to homocysteine levels in patients with Parkinson's disease who…”
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Wiedemann-Rautenstrauch syndrome: Report of a variant case
Published in American Journal of Medical Genetics Part A (01-06-2012)Get full text
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