Person: YEŞİL, GÖZDE
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Publication Metadata only Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions.(2019-09-16) Yavas, Abali; Yesil, GÖZDE; Kirkgoz, T; Cicek, N; Alpay, H; Turan, S; Bereket, A; Guran, T; YEŞİL, GÖZDEPublication Metadata only A rare cause of hypertension in childhood: Answers.(2019-09-20) Kucuk, N; ABALı, S; Canpolat, N; Yesil, GÖZDE; Turan, S; Bereket, A; Guran, T; YEŞİL, GÖZDEPublication Metadata only Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) with a novel PIGA mutation(2019-07-01) Gulec, Z. E. Kaya; Yesil, GÖZDE; Onal, H.; Yalcinkaya, C.; YEŞİL, GÖZDEPublication Open Access Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders(2017-01-01) Stray-Pedersen, Asbjorg; Sorte, Hanne Sormo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K.; Akdemir, Zeynep H. Coban; Erichsen, Hans Christian; Forbes, Lisa R.; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N.; Muzny, Donna M.; Rodningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K.; Noroski, Lenora M.; Seeborg, Filiz O.; Davis, Carla M.; Canter, Debra L.; Mace, Emily M.; Vece, Timothy J.; Allen, Carl E.; Abhyankar, Harshal A.; Boone, Philip M.; Beck, Christine R.; Wiszniewski, Wojciech; Fevang, Borre; Aukrust, Pal; Tjonnfjord, Geir E.; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordoy, Ingvild; Jorgensen, Silje F.; Abrahamsen, Tore G.; Overland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T. N.; Kulseth, Mari Ann; Prescott, Trine E.; Rustad, Cecilie F.; Heimdal, Ketil R.; Belmont, John W.; Rider, Nicholas L.; Chinen, Javier; Cao, Tram N.; Smith, Eric A.; Soledad Caldirola, Maria; Bezrodnik, Liliana; Lugo Reyes, Saul Oswaldo; Espinosa Rosales, Francisco J.; Guerrero-Cursaru, Nina Denisse; Pedroza, Luis Alberto; Poli, Cecilia M.; Franco, Jose L.; Trujillo Vargas, Claudia M.; Aldave Becerra, Juan Carlos; Wright, Nicola; Issekutz, Thomas B.; Issekutz, Andrew C.; Abbott, Jordan; Caldwell, Jason W.; Bayer, Diana K.; Chan, Alice Y.; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, GÖZDE; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K.; Ehlayel, Mohammad S.; Jolles, Stephen; Flato, Berit; Bertuch, Alison A.; Hanson, I. Celine; Zhang, Victor W.; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine M.; Boerwinkle, Eric; Gibbs, Richard A.; Shearer, William T.; Lyle, Robert; Orange, Jordan S.; Lupski, James R.; YEŞİL, GÖZDEBackground: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. Objective: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.Publication Metadata only MRI and MRS findings in fucosidosis; a rare lysosomal storage disease(2016-04-01) EDIZ, Suna Sahin; Aralasmak, AYŞE; YILMAZ, TEMEL FATİH; Toprak, HÜSEYİN; Yesil, GÖZDE; Alkan, ALPAY; ARALAŞMAK, AYŞE; YILMAZ, TEMEL FATİH; TOPRAK, HÜSEYİN; YEŞİL, GÖZDE; ALKAN, ALPAYFucosidosis is a rare lysosomal storage disorder caused by deficient activity of the enzyme L-fucosidase in all tissues. We presented magnetic resonance imaging [MRI] and MR spectroscopy [MRS] findings of a 4-year-old boy with genetically proven fucosidosis. He had a history and clinical findings of recurrent sinopulmonary infections, hypertonicity on lower extremities, gingival hypertrophy, bilateral ptosis, angiokeratoma corporis diffusum, and dysostosis multiplex. He had no organomegaly and urine glycosaminoglycan analysis were normal. MRI revealed abnormalities within the globus pallidus and periventricular and subcortical white matter. MRS showed a peak at the 3.8-3.9 ppm as a result of accumulating carbohydrate containing macromolecules and another peak at 1.2 which was doublet and inverted on TE 135, suggesting fructose peak. A final diagnosis of fucosidosis was proved by mutational analysis of FUCA1 gene which is responsible for the Fucosidosis phenotype. Two recent reports of MRS of two patients demonstrated that MRS is specific for fucosidosis. In this case, we aim to discuss fucosidosis with MRI and MRS findings accompanied by the literature. (c) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rightsPublication Metadata only The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children(2014-01-01T00:00:00Z) Seven, Mehmet; Batar, Bahadir; Unal, Selin; Yesil, GÖZDE; Yuksel, Adnan; Guven, Mehmet; YEŞİL, GÖZDEOne-third of all individuals with epilepsy are resistant to antiepileptic drug (AED) treatment. Antiepileptic treatment response has been suggested to be modulated by genetic polymorphisms of drug efflux transporters. Several polymorphic variants within the multidrug resistance 1 (MDR1) gene, which encodes the major transmembrane efflux transporter P-glycoprotein, have been proposed to be associated with AED resistance in epilepsy patients. The aim of this study was to evaluate the effect of C3435T and G2677T/A polymorphisms of MDR1 on AED resistance in Turkish children with epilepsy. MDR1 C3435T and G2677T/A were genotyped in 152 patients with epilepsy, classified as drug-resistant in 69 and drug-responsive in 83. Genotypes of the C3435T and G2677T/A polymorphisms were determined by polymerase chain reaction followed by restriction fragment length polymorphism. Genotype and allele frequencies of C3435T and G2677T/A polymorphisms of the MDR1 gene did not differ between drug-resistant and drug-responsive epilepsy patients. Our results suggest that MDR1 C3435T and G2677T/A polymorphisms are not associated with AED resistance in Turkish epileptic patients. To clarify the exact clinical implication of the MDR1 polymorphisms on the multidrug resistance in epilepsy, further investigations in various ethnic populations would be necessary.Publication Metadata only Congenital Agenesis of Scrotum and Labia Majora in Siblings(2013-02-01) SILAY, Mesrur Selcuk; Yesil, GÖZDE; Yildiz, KEMALETTİN; KILINCASLAN, Huseyin; Ozgen, Ilker Tolga; ARMAGAN, Abdullah; YEŞİL, GÖZDE; YILDIZ, KEMALETTİN; ÖZGEN, İLKER TOLGACongenital agenesis of the scrotum and labia majora is very exceptional. To date, only 6 cases of scrotal agenesis have been reported. To our knowledge, the anomalies of the labioscrotal folds in siblings have not yet been reported. We report the complete agenesis of the scrotum and labia majora within the 3 members of the same family. Additionally, successful reconstruction of the neoscrotum was performed for the first time for congenital scrotal agenesis. UROLOGY 81: 421-423, 2013. Crown Copyright (C) 2013 Published by Elsevier Inc.Publication Metadata only The Effect of Genetic Polymorphisms of Cytochrome P450 CYP2C9, CYP2C19, and CYP2D6 on Drug-Resistant Epilepsy in Turkish Children(2014-04-01T00:00:00Z) Seven, Mehmet; Batar, Bahadir; Unal, Selin; Yesil, GÖZDE; Yuksel, Adnan; Guven, Mehmet; YEŞİL, GÖZDEDespite the availability of several antiepileptic drugs, drug resistance remains one of the major challenges in epilepsy therapy. Genetic factors are known to play a significant role in the prognosis and treatment of epilepsy. The aim of this study was to determine the frequencies of alleles for CYP2C9, CYP2C19, and CYP2D6 genes in Turkish children with epilepsy, and to investigate the relationship between the genetic polymorphism of these genes with multiple drug resistance in epilepsy patients.Publication Metadata only Microcephaly, Dysmorphic Features, Corneal Dystrophy, Hairy Nipples, Underdeveloped Labioscrotal Folds, and Small Cerebellum in Four Patients(2016-06-01) Kayserili, Hulya; Altunoglu, Umut; Yesil, GÖZDE; Rosti, Rasim Ozgur; YEŞİL, GÖZDEPontocerebellar hypoplasia (PCH) can occur as an isolated entity or part of a syndrome. PCH has been reported with facial dysmorphism, ocular anomalies, and genital anomalies, but the co-occurrence of all four has not been previously described. We report on four patients, born to two consanguineous families that are not related to one another, with distinctive facial features (short forehead, laterally extended, medially flared eyebrows), corneal dystrophy, underdevelopment of labioscrotal folds, and nonprogressive PCH. In addition, the patients show hair extruding from the lactiferous ducts, which to our knowledge has not been described before. The parental consanguinity, affected siblings of both genders, and absent manifestations in parents, indicate an autosomal recessive pattern of inheritance as most likely. (C) 2016 Wiley Periodicals, Inc.Publication Metadata only A rare cause of hypertension in childhood: Questions.(2019-09-20) Kucuk, N; Yavas, Abali; Canpolat, N; Yesil, GÖZDE; Turan, S; Bereket, A; Guran, T; YEŞİL, GÖZDE