Now showing items 1-15 of 15

    • A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect 

      GÜRAN, TÜLAY; Celayir, Aysenur; Bosnali, Oktav; Cesur, Suna; Guran, Omer; Yesil, GÖZDE; BEREKET, ABDULLAH; Topcuoglu, Sevilay (2012-01-01)
      Congenital adrenal hyperplasia (CAH) is a group of disorders affecting the adrenal steroid synthesis. The most common form, 21-hydroxylase deficiency (21-OHD), leads to decreased production of cortisol and aldosterone with ...
    • A Novel GJC2 Mutation Associated with Hypomyelination and Mullerian Agenesis Syndrome: Coincidence or a New Entity? 

      Yalcinkaya, Cengiz; Keyser, Britta; Verbeke, Jonathan I. M. L.; Tuysuz, Beyhan; Erturk, Ozdem; Yesil, GÖZDE; van der Knaap, Marjo S.; Sistermans, Erik A.; Steinemann, Doris; Stuhrmann, Manfred (2012-06-01)
      In recent years, several new white matter diseases have been identified based on magnetic resonance imaging and clinical findings. For most newly defined disorders the genetic basis has been identified. However, there is ...
    • A rare cause of hypertension in childhood: Answers. 

      Kucuk, N; Guran, T; Abalı, S; Yavas, Abalı; Bereket, A; Turan, S; Yesil, GÖZDE; Canpolat, N (2019-09-20)
    • A rare cause of hypertension in childhood: Questions. 

      Kucuk, N; Guran, T; Abali, S; Yavas, Abali; Bereket, A; Turan, S; Yesil, GÖZDE; Canpolat, N (2019-09-20)
    • Congenital Agenesis of Scrotum and Labia Majora in Siblings 

      KILINCASLAN, Huseyin; Yildiz, KEMALETTİN; ARMAGAN, Abdullah; Yesil, GÖZDE; SILAY, Mesrur Selcuk; Ozgen, Ilker Tolga (2013-02-01)
      Congenital 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 ...
    • Microcephaly, Dysmorphic Features, Corneal Dystrophy, Hairy Nipples, Underdeveloped Labioscrotal Folds, and Small Cerebellum in Four Patients 

      Kayserili, Hulya; Yesil, GÖZDE; Rosti, Rasim Ozgur; Altunoglu, Umut (2016-06-01)
      Pontocerebellar 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 ...
    • MRI and MRS findings in fucosidosis; a rare lysosomal storage disease 

      Toprak, HÜSEYİN; YILMAZ, TEMEL FATİH; Yesil, GÖZDE; EDIZ, Suna Sahin; Alkan, ALPAY; Aralasmak, AYŞE (2016-04-01)
      Fucosidosis 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 ...
    • Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) with a novel PIGA mutation 

      Gulec, Z. E. Kaya; Yalcinkaya, C.; Onal, H.; Yesil, GÖZDE (2019-07-01)
    • Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders 

      West, Christina; Wong, Lee-Jun; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine M.; Boerwinkle, Eric; Gibbs, Richard A.; Shearer, William T.; Lyle, Robert; Orange, Jordan S.; Lupski, James R.; 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; Yesil, GÖZDE; 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; Burstedt, Magnus; Karaca, Ender; 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.; Hu, Jianhong (2017-01-01)
      Background: 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 ...
    • Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers. 

      Yavas, Abali; Guran, T; Kirkgoz, T; Yesil, GÖZDE; Bereket, A; Turan, S; Alpay, H; Cicek, N (2019-09-16)
    • Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions. 

      Yavas, Abali; Guran, T; Kirkgoz, T; Yesil, GÖZDE; Bereket, A; Turan, S; Alpay, H; Cicek, N (2019-09-16)
    • Restrictive Dermopathy in a Turkish Newborn 

      Hatipoglu, Ihan; Tuysu, Beyhan; De Sandre-Giovannoli, Annachiara; Levy, Nicolas; Esteves-Vieira, Vera; Yesil, GÖZDE (2011-07-01)
      A 4-day-old boy presented with tight, translucent skin, prominent vessels, skin erosions, and dysmorphic findings, including hypertelorism, antimongoloid axis, sparse eyelashes and eyebrows, pinched nose, natal teeth, ...
    • The Contribution of DTI in Determining the Relationship of Epilepsy and Brain Lesions in Children with Tuberous Sclerosis 

      Iscan, AKIN; Aralasmak, AYŞE; GULER, Serhat; Tüzün, Umit; YETIS, Huseyin; Alkan, ALPAY; Kurtcan, SERPİL; Yesil, GÖZDE; Toprak, HÜSEYİN; Ozdemir, HÜSEYİN (2018-01-01)
      Background: In spite of the fact that advanced neuroimaging applications are used for the evaluation of Tuberous Sclerosis (TS) patients, a few studies analyzed relationship between the measurements of DTI (diffusion tensor ...
    • The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children 

      Seven, Mehmet; Guven, Mehmet; Yuksel, Adnan; Unal, Selin; Batar, Bahadir; Yesil, GÖZDE (2014-01-01)
      One-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. ...
    • The Effect of Genetic Polymorphisms of Cytochrome P450 CYP2C9, CYP2C19, and CYP2D6 on Drug-Resistant Epilepsy in Turkish Children 

      Seven, Mehmet; Guven, Mehmet; Yuksel, Adnan; Unal, Selin; Batar, Bahadir; Yesil, GÖZDE (2014-04-01)
      Despite 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 ...