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Öğe Association of Apolipoprotein E Polymorphism with Intravitreal Ranibizumab Treatment Outcomes in Age-Related Macular Degeneration(Taylor & Francis Inc, 2016) Bakbak, Berker; Ozturk, Banu Turgut; Zamani, Ayse Gul; Gonul, Saban; Iyit, Neslihan; Gedik, Sansal; Yildirim, M. SelmanPurpose: Genetic factors are known to influence the response to anti-vascular endothelial growth factor (VEGF) treatment in exudative age-related macular degeneration (AMD). The current study was conducted to investigate the association of Apolipoprotein E (ApoE) polymorphism with the treatment response to ranibizumab for exudative AMD.Methods: One hundred nine eyes (109 patients, 59.6% male, mean age 63.847.22 years) treated with intravitreal ranibizumab injections were included in the analysis. Smoking status and lesion type were recorded. Patients were categorized into three groups according to visual acuity (VA) change at 6 months after the first injection: VA loss >5 Early Treatment Diabetic Retinopathy Study (ETDRS) letters (Group 1); VA change between five ETDRS letters gain and loss (Group 2); VA improvement >5 ETDRS letters (Group 3). The association of ApoE gene polymorphisms with the three groups was evaluated.Results: Both smoking status and lesion type showed no significant association with VA change (p=0.12 and p=0.64, respectively). A lower frequency of 2 and a higher frequency of 4 were observed in Group 3 (2.9 and 25.7%, respectively). VA improvement with more than five ETDRS letters was significantly associated with the presence of the 4 genotype (p=0.01).Conclusions: This study demonstrated that carriers of the ApoE 4 polymorphism genotype show demonstrable improvement in VA after treatment with ranibizumab in exudative AMD. ApoE polymorphism identification may be used as a genetic screening to tailor individualized therapeutic approach for optimal treatment in neovascular AMD.Öğe Del(12)(p13) assocciated with IGH rearrangement in B-cell acute lymphoblastic leukemia with Down syndrome(Springer, 2013) Durakbasi-Dursun, H. Gul; Tokgoz, Huseyin; Tuncez, Ebru; Caliskan, Umran; Zamani, Ayse Gul; Acar, Aynur; Yildirim, M. Selman[Abstract Not Availabe]Öğe A rare homozygous microdeletion syndrome: hypotonia-cystinuria syndrome(Academic Press Inc Elsevier Science, 2021) Metli, Kubra; Zamani, Ayse; Ozdemir, Taha; Yildirim, M. Selman[Abstract Not Availabe]Öğe Recurrent Proximal 18p Monosomy and 18q Trisomy in a Family due to a Pericentric Inversion(Wiley, 2014) Zamani, Ayse Gul; Acar, Aynur; Durakbasi-Dursun, Gul; Yildirim, M. Selman; Ceylaner, Serdar; Tuncez, EbruHere, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21qter and a deletion of p11.2pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. (c) 2014 Wiley Periodicals, Inc.