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Öğe ADAM33, TLR-4 and CCR5 Delta 32 polymorphisms in children sensitized to same antigen displaying different phenotype(Blackwell Publishing, 2007) Yuksel, H.; Onay, H.; Yilmaz, O.; Sogut, A.; Pehlivan, S.; Kirmaz, C.; Özkınay, FerdaÖğe Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: Mutation profile and description of a novel mutation(Elsevier Science Bv, 2013) Aykut, A.; Karaca, E.; Onay, H.; Ucar, S. Kalkan; Coker, M.; Cogulu, O.; Özkınay, FerdaNiemann-Pick disease (NPD) is a lysosomal storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type A and B is caused by mutations in the sphingomyelin phosphodiesterase gene (SMPD1) coding for ASM. The aim of this study was to evaluate the spectrum of SMPD1 gene mutations in Turkish NPD patients and to study genotype-phenotype associations. We present a molecular analysis of 10 Turkish NPD type A/B patients. Four of the patients had type A and six had type B NPD. All mutant SMPD1 alleles were identified, including 5 different mutations, 1 of which was novel. These mutations included three missense mutations: c.409T>C (p.L137P), c.1262 A>G (p.H421R) and c.1552T>C (p.L549P), a common frameshift mutation in codon 189, identified in three patients, is caused by the deletion of the 567T, introducing a stop codon 65 amino acids downstream (p.P189fsX65), and a novel frameshift mutation c.1755delC (p.P585PfsX24) which was not reported previously. (C) 2013 Published by Elsevier B.V.Öğe ASSOCIATION OF RANK GENE POLYMORPHISMS WITH BONE MINERAL DENSITY IN POSTMENOPAUSAL TURKISH WOMEN(Springer London Ltd, 2010) Isleten, B.; Durmaz, B.; Durmaz, B.; Özkınay, Ferda; Onay, H.; Oztekin, K.Öğe Beta-2-Microglobulin Deficiency: More Than a MHC-Class-I Deficiency Syndrome(Springer/Plenum Publishers, 2014) Ardenz, O.; Unger, S.; Onay, H.; Keck, C.; Cianga, C.; Gerceker, B.; Martin, B.; Fuchs, I. L. K. A.; Salzer, U.; Ammann, S.; Ikinciogullari, A.; Guloglu, D.; Dereli, T.; Thimme, R.; Ehl, S.; Schwarz, K.; Schmitt-Graeff, A.; Cianga, P.; Fisch, P. A. U. L.; Warnatz, K.Öğe A CARDIO-FACIO-CUTANEOUS SYNDROME CASE WITH TIGHT ACHILLES TENDONS(Medecine Et Hygiene, 2012) Hazan, F.; Aykut, A.; Hizarcioglu, M.; Tavli, V.; Onay, H.; Özkınay, FerdaA cardio-facio-cutaneons syndrome case with tight Achilles tendons: Cardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.Öğe Chanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease(Elsevier Ltd, 2023) Durmazer, E.; Demir, M.; Onay, H.; Gunsar, F.Chanarin-Dorfman Syndrome (CDS); is a rare lipid storage disease with ichthyosis, hepatomegaly, myopathy, neuropathy, deafness, and ocular findings. Here, we aim to present a elderly CDS case with highlightening the new endocrinological findings. A 66-year-old male patient with cirrhosis hospitalized for liver transplantation. We suspected Chanarin-Dorfman Syndrome with ichthyosis, fatty liver, and syndromic facial features with bilateral ectropion, deafness, and malocclusion. We showed the lipid droplets in neutrophils called patognomonic Jordans’ anomaly. Homozygous c.47+1 G>A mutation in the ABHD5 (NM_016006.6) gene were detected by clinical exome sequencing. Out of <160 CDS cases in the literature, this is the second eldest CDS patient and first with adrenal insufficiency, parathyroid lipoadenoma and atrophic pancreas. Clinicians should be aware of CDS as a rare cause of fatty liver. We recommend a blood smear and genetic analyses in patients with severe ichtiosis, ectropion, deafness and multiple endocrinolgic disorders. © 2023Öğe Chromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridization(Medecine Et Hygiene, 2006) Cogulu, O.; Gunduz, C.; Karaca, E.; Onay, H.; Özkınay, C.; Özkınay, FerdaTo screen a selected group of children with idiopathic mental retardation for subtelomeric abnormalities using the fluorescent in situ hybridization (FISH), which has been reported to be cost-effective in routine applications. We also aimed to assess the availability of the scoring system which is used for selection of those children for FISH analysis. A total of 30 children aged 3-16 years with idiopathic mental retardation (moderate to severe) and normal karyotypes were included in this study. The children whose parents had consanguineous marriages were excluded from the study. All cases were evaluated using the scoring system published by de Vries et al. (5) Forty-one subtelomeric regions for each case were analyzed by fluorescent in situ hybridization. One case with a score value 5 presented terminal deletion of chromosome 9p by FISH (3.3 %). Analyzing chromosomes of the same case with higher resolution G-banding showed the same abnormality. The frequency of subtelomeric abnormalities in our study group was much lower than the frequencies reported in other studies and the scoring criterions suggested by de Vries et al. have not effectively increased our subtelomeric deletion detection rates. Autosomal recessive disorders may be a more common reason compared to subtelomeric abnormalities in this group of patients in the countries where consanguinity rate is high. Laboratories may be encouraged to analyze high-resolution G-banded karyotypes in those cases. Moreover more effective selection criteria for FISH are suggested by establishing thorough genotype-phenotype correlations besides case reports with different subtelomeric abnormalities.Öğe Clinical and molecular aspects of PTEN mutations in pediatric population: A retrospective study(Nature Publishing Group, 2019) Isik, E.; Simsir, O. S.; Onay, H.; Atik, T.; Aykut, A.; Durmaz, A.; Özkınay, Ferda[No abstract available]Öğe Clinical and molecular aspects of the patients with Berardinelli-Seip congenital lipodystrophy types 1 and 4(Nature Publishing Group, 2019) Gunes, N.; Erkan, T.; Kutlu, T.; Onay, H.; Atik, T.; Tuysuz, B.[No abstract available]Öğe CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE(Medecine Et Hygiene, 2015) Tuysuz, B.; Cinar, B.; Laciner, S.; Onay, H.; Mittaz-Crettol, L.Clinical variability in two sisters with Keutel syndrome due to a homozygous mutation in MGP gene: Keutel syndrome (KS) is an autosomal recessive disease characterised by abnormal cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenosis, hearing loss and midface retrusion. KS is caused by homozygous mutations in MGP, a gene encoding Matrix Gla protein which acts as a calcification inhibitor in extracellular matrix. We present two Turkish sisters (22 and 13 years old) who had abnormal cartilage calcification, brachytelephalangism, congenital heart defect and chronic asthmatic bronchitis. The patients were homozygous for c.62-2A>G (IVS1-2 A>G) mutation in MGP gene. Abnormal cartilage calcification, brachytelephalangism and midfacial retrusion are the hallmarks of KS. It was observed that the younger sister had striking cartilaginous calcifications, midfacial retrusion and severe brachytelephalangism while her older sister had mild costal cartilaginous calcifications and brachytelephalangism without any midfacial retrusion. Intrafamiliar clinical variability for KS has not been described previously.Öğe CONGENITAL ADRENAL HYPERPLASIA WITH COMPOUND HETEROZYGOUS I2 SPLICE AND P453S MUTATIONS(Editura Acad Romane, 2022) Almacan, B.; Ozdemir, N.; Onay, H.; Hekimsoy, Z.Background. Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder caused by congenital deficiency of enzymes involved in cortisol biosynthesis from cholesterol in the adrenal cortex. In this article, we aimed to present a 29-year-old female patient with I2 splice point mutation detected in one allele and P453S mutation on the other allele of CYP21A2 gene associated with 21-hydroxylase deficiency. Her further investigation revealed that her mother had P453S mutation and her father had I2 splice mutation. Case report. A 29-year-old woman with CAH was admitted to our clinic with the request of pregnancy. Her physical examination revealed a height of 151 cm, weight 59 kg, body mass index 25.8 kg/m2. According to Tanner staging, she had Stage 3 breast development and pubic hair. Her laboratory test results were as follows: Glucose: 79 mg/dL (70-100 mg/dL), Creatinine: 0.6 (0.5-0.95 mg/ dL), Sodium: 138 mEq/L (135-145 mEq/L), Potassium: 4.4 mEq/L (3.5-5.1 mEq/L), Cortisol: 0.05 mu g/dL, ACTH: <5.00 pg/mL (5-46 pg/mL), 17-OH progesterone: 7.67 ng/mL (0-3 ng/mL). Chromosome analysis revealed a 46, XX karyotype. CYP21A2 gene mutation analysis was performed for the patient whose clinical history and laboratory results were compatible with congenital adrenal hyperplasia. During the reverse dot blot analysis, I2 splice mutation in one allele and P453S mutation in the other allele were detected. Conclusion. Although the I2 splice mutation detected in our case was mostly associated with a saltwasting form of CAH, it was thought that the other P453S mutation detected may explain the relatively good clinical course in our case.Öğe A cultivating experience of Ege University Faculty of Medicine, with research training program; AEP(Wiley-Blackwell, 2016) Sezer, E.; Mandiracioglu, A.; Bati, H.; Ocek, Z.; Cicek, C.; Baka, M.; Evren, V.; Kumbaraci, B. S.; Yilmaz, O.; Onay, H.; Goksel, S.; Koroglu, O. A.Öğe Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems(Sciendo, 2021) Tanriverdi, S.; Polat, M.; Onay, H.Cystic fibrosis (CF) is an autosomal recessive disease. The genetic transition occurs with CF transmembrane conductance regulator (CFTR) gene mutation. We aimed to determine the frequency of CF mutations and also new mutations in the CFTR gene in neonates with respiratory distress. Newborn babies hospitalized due to respiratory distress were included in the patient group. The control group consisted of infants who had no respiratory distress. The CFTR genes of both groups were analyzed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. A total of 40 patients (20 in the patient group and 20 in the control group) were evaluated. The CFTR gene analysis was normal in 16 neonates in the patient group, whereas in others: A46D (c.137C>A) (n = 1), D1312G (c.3935A>G) (n = 1), R117H (c.350G>A) (n = 1), S1426P (c.4276T>C) (n = 1) heterozygotes were detected; CFTR gene analysis was normal at 14 neonates in the control group, whereas in others: E1228G (c.3683A>G) (n = 1), E217G (c.650A>G) (n = 1), E632TfsX9 (c1894_1895delAG) (n = 1), I807M (c.2421 A>G) (n = 2), S573F (c.1718C>T) (n = 1) heterozygotes were detected. There was no significant difference in the patient and control groups' CFTR gene analysis (p = 0.340). This study demonstrates the importance of CFTR gene analysis in asymptomatic newborn infants for follow-up and early diagnosis of CFTR-related disorders. In this study, a c.1894_1895delAG (E632TfsX9) heterozygous mutation detected in the CFTR gene in an asymptomatic newborn infant, was first encountered in the literature.Öğe DETERMINATION OF FETAL RHESUS D STATUS BY MATERNAL PLASMA DNA ANALYSIS(Macedonian Acad Sciences Arts, 2013) Aykut, A.; Onay, H.; Sagol, S.; Gunduz, C.; Özkınay, Ferda; Cogulu, O.In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR). Fetal genotyping was performed on 30 RhD-negative women between 9 and 39 weeks of gestation who were referred to us for invasive testing [amniocentesis/chorionic villi sampling (CVS)]. The fetal RHD genotype was determined based on real-time PCR method. Exons 7 and 10 of the RHD and SRY genes were targeted. Among the pregnant women, 12 were carrying male and 17 were carrying female fetuses. Out of 29 pregnant women, 21 had RhD-positive and nine had RhD-negative fetuses. One sample) case 12, whose blood group was found to be AB Rh [+] (was excluded due to controversial results from repeated serological analyses. All prenatal results were in concordance with postnatal RhD status and fetal sex without false-positive or -negative results. Performing real-time PCR on cffDNA showed accurate, efficient and reliable results, allowing rapid and high throughput non invasive determination of fetal sex and RhD status in clinical samples.Öğe DETERMINATION OF FETAL RHESUS D STATUS BY MATERNAL PLASMA DNA ANALYSIS(Macedonian Acad Sciences Arts, 2013) Aykut, A.; Onay, H.; Sagol, S.; Gunduz, C.; Özkınay, Ferda; Cogulu, O.In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR). Fetal genotyping was performed on 30 RhD-negative women between 9 and 39 weeks of gestation who were referred to us for invasive testing [amniocentesis/chorionic villi sampling (CVS)]. The fetal RHD genotype was determined based on real-time PCR method. Exons 7 and 10 of the RHD and SRY genes were targeted. Among the pregnant women, 12 were carrying male and 17 were carrying female fetuses. Out of 29 pregnant women, 21 had RhD-positive and nine had RhD-negative fetuses. One sample) case 12, whose blood group was found to be AB Rh [+] (was excluded due to controversial results from repeated serological analyses. All prenatal results were in concordance with postnatal RhD status and fetal sex without false-positive or -negative results. Performing real-time PCR on cffDNA showed accurate, efficient and reliable results, allowing rapid and high throughput non invasive determination of fetal sex and RhD status in clinical samples.Öğe The development of a fast newborn screening method for common neonatal metabolic disorders based on nanopore sequencing technology(Nature Publishing Group, 2019) Onay, H.; Akgun, B.; Yalcinkaya, T.; Dilsizoglu, E.; Kaya, A. B.; Tasar, O.; Atik, T.[No abstract available]Öğe Effect of CYP2C9 and VKORC1 Gene Variants in Determining the Maintenance of Warfarin Dose and Complications in Patients With Left Ventricular Assist Device(Elsevier Science Inc, 2014) Ertugay, S.; Durmaz, B.; Engin, C.; Onay, H.; Nalbantgil, S.; Yagdi, T.; Özkınay, Ferda; Ozbaran, M.Öğe The effect of genetic polymorphism on the dose and tlerability to beta-blocker therapy in turkish heart failure population(Wiley-Blackwell, 2015) Zoghi, M. Mehdi; Yilmaz, M. B.; Cavusoglu, Y.; Aykut, A.; Onay, H.; Ergene, O.Öğe The effect of genetic polymorphism on the dose and tlerability to beta-blocker therapy in turkish heart failure population(Wiley-Blackwell, 2015) Zoghi, M. Mehdi; Yilmaz, M. B.; Cavusoglu, Y.; Aykut, A.; Onay, H.; Ergene, O.Öğe The effect of genetic polymorphism on the dose and tlerability to beta-blocker therapy in turkish heart failure population(Wiley-Blackwell, 2015) Zoghi, M. Mehdi; Yilmaz, M. B.; Cavusoglu, Y.; Aykut, A.; Onay, H.; Ergene, O.
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