Now showing items 1-7 of 7

    • A Case with Laron Syndrome 

      ÖZGEN, İLKER TOLGA; Yesil, Gozde; CESUR, Yaşar; Kutlu, Esra (2019-07-01)
      Laron syndrome (LS) is a rare disorder leading to short stature as a result of growth hormone (GH) insensitivity. It is caused by mutations in GH receptor gene and characterized by post-natal growth retardation, craniofacial ...
    • Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease 

      Fenercioglu, Elif; Seven, Mehmet; Guran, Tulay; Elcioglu, Nursel; Yildirim, Mahmut Selman; Alikasifoglu, Mehmet; Ture, Mehmet; Yakut, Tahsin; Overton, John D.; Yuksel, Adnan; Ozen, Mustafa; Muzny, Donna M.; Adams, David R.; Boerwinkle, Eric; Chung, Wendy K.; Gibbs, Richard A.; Lupski, James R.; Yesil, Gozde; Gonzaga-Jauregui, Claudia; Erdin, Serkan; Bayram, Yavuz; Campbell, Ian M.; Gambin, Tomasz; Aktas, Dilek; Akdemir, Zeynep Coban; Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Hunter, Jill V.; Atik, Mehmed M.; Van Esch, Hilde; Yuan, Bo; Wiszniewski, Wojciech; Isikay, Sedat; Yuregir, Ozge O.; Bozdogan, Sevcan Tug; Aslan, Huseyin; Aydin, Hatip; Tos, Tulay; Aksoy, Ayse; De Vivo, Darryl C.; Jain, Preti; Geckinli, B. Bilge; Sezer, Ozlem; Gul, Davut; Durmaz, Burak; Cogulu, Ozgur; Ozkinay, Ferda; Topcu, Vehap; Candan, Sukru; Cebi, Alper Han; Ikbal, Mevlit; Gulec, Elif Yilmaz; Gezdirici, Alper; Koparir, Erkan; Ekici, Fatma; Coskun, Salih; Cicek, Salih; Karaer, Kadri; Koparir, Asuman; Duz, Mehmet Bugrahan; Kirat, Emre; Ulucan, Hakan (2015-11-04)
      Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome ...
    • Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes 

      Geckinli, B. Bilge; Alnaqeb, Dhekra; Alshammari, Muneera J.; Bayram, Yavuz; Atik, Mehmed M.; Aydin, Hatip; Seven, Mehmet; Ulucan, Hakan; Fenercioglu, Elif; Ozen, Mustafa; Jhangiani, Shalini; Muzny, Donna M.; Boerwinkle, Eric; Tuysuz, Beyhan; Alkuraya, Fowzan S.; Gibbs, Richard A.; Lupski, James R.; Yesil, Gozde; Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V. Reid; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R.; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Ha Lid (2015-02-01)
      Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal ...
    • Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation 

      Bektas, Gonca; Yesil, Gozde; Ozmen, Meral; Caliskan, Mine; Aydinli, Nur; Yildiz, Edibe Pembegul (2017-05-01)
      Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid 2-hydroxylase (FA2H) gene in different loci are responsible for phenotypic variability. ...
    • Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism 

      Muzny, Donna; Karaca, Ender; Pehlivan, Davut; Jhangiani, Shalini N.; Bereket, Abdullah; Lupski, James R.; King, Mary-Claire; Gibbs, Richard A.; Boerwinkle, Eric; Buyukgebiz, Atilla; Yesil, Gozde; Bayram, Yavuz; Gulsuner, Suleyman; GÜRAN, TÜLAY; Abaci, Ayhan; Gulsuner, Hilal Unal; Atay, Zeynep; Pierce, Sarah B.; Gambin, Tomasz; Lee, Ming; Turan, Serap; Bober, Ece; Atik, Mehmed M.; Walsh, Tom (2015-05-01)
      Context: Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex ...
    • Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy 

      McGaughran, Julie; Shen, Joseph; Cleary, John G.; Grimmond, Sean M.; King, Glenn F.; Yuksel, Adnan; Guler, Serhat; Yesil, Gozde; Taft, Ryan J.; Gabbett, Michael T.; Simons, Cas; Rash, Lachlan D.; Crawford, Joanna; Ma, Linlin; Cristofori-Armstrong, Ben; Miller, David; Ru, Kelin; Baillie, Gregory J.; Alanay, Yasemin; Jacquinet, Adeline; Debray, Francois-Guillaume; Verloes, Alain (2015-01-01)
      Temple-Baraitser syndrome (TBS) is a multisystem developmental disorder characterized by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and great toe(1,2). Here we report damaging ...
    • Pseudohypoparathyroidism Type Ia with Normocalcemia 

      Kutlu, Esra; Yesil, Gozde; CESUR, Yaşar; ÖZGEN, İLKER TOLGA (2019-04-01)
      Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms ...