Now showing items 1-20 of 30

    • A Case with Laron Syndrome 

      ÖZGEN, İLKER TOLGA; CESUR, Yaşar; Kutlu, Esra; Yesil, Gozde (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 ...
    • A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene 

      Eser, Metin; Ayaz, Akif; YEŞİL, GÖZDE (2017-09-01)
      Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of ...
    • 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; Yesil, GÖZDE; Guran, Omer; Cesur, Suna; Bosnali, Oktav; Celayir, Aysenur; Topcuoglu, Sevilay; BEREKET, ABDULLAH (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; Erturk, Ozdem; Tuysuz, Beyhan; Yesil, GÖZDE; Verbeke, Jonathan I. M. L.; Keyser, Britta; Stuhrmann, Manfred; Steinemann, Doris; Sistermans, Erik A.; van der Knaap, Marjo S. (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 Adrenal Insufficiency - Isolated ACTH Deficiency Due toTBX19Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature 

      Al, Asli Derya Kardelen; Poyrazoglu, Sukran; Aslanger, Ayca; YEŞİL, Gözde; Ceylaner, Serdar; Bas, Firdevs; Darendeliler, Feyza (2020-06-01)
      Introduction:Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare cause of adrenal insufficiency and T-box pituitary restricted transcription factor (TBX19) mutations are responsible for two-thirds of the ...
    • An infant with spinal muscular atrophy and tetrology of Fallot 

      Ekici, Baris; Demir, Ibrahim Halil; Ocak, Suheyla; YEŞİL, GÖZDE; Tatli, Burak; Celebi, Ahmet (2012-09-01)
    • Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities 

      Karaca, Ender; Posey, Jennifer E.; Bostwick, Bret; Liu, Pengfei; Gezdirici, Alper; YEŞİL, GÖZDE; Akdemir, Zeynep Coban; Bayram, Yavuz; Harms, Frederike L.; Meinecke, Peter; Alawi, Malik; Bacino, Carlos A.; Sutton, V. Reid; Kortuem, Fanny; Lupski, James R. (2019-08-13)
      Co-occurrence of primordial dwarfism and microcephaly together with particular skeletal findings are seen in a wide range of Mendelian syndromes including microcephaly micromelia syndrome (MMS, OMIM 251230), microcephaly, ...
    • Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations 

      Iida, Aritoshi; Simsek-Kiper, Pelin Ozlem; Mizumoto, Shuji; Hoshino, Touma; Elcioglu, Nursel; Horemuzova, Eva; Geiberger, Stefan; YEŞİL, GÖZDE; Kayserili, Hulya; ÜTİNE, GÜLEN EDA; Boduroglu, Koray; Watanabe, Shigehiko; Ohashi, Hirofumi; Alanay, Yasemin; Sugahara, Kazuyuki; Nishimura, Gen; Ikegawa, Shiro (2013-10-01)
      Brachyolmia is a heterogeneous skeletal dysplasia characterized by generalized platyspondyly without significant long-bone abnormalities. Based on the mode of inheritance and radiographic features, at least three types of ...
    • Comparison of metabolic profile and abdominal fat distribution between karyotypically normal women with premature ovarian insufficiency and age matched controls. 

      YILDIZ, S; ATES, SEDA; YESIL, GÖZDE; Sevket, OSMAN; MOLLA, T (2014-11-01)
      Objective: We designed a prospective case-control study in order to investigate the lipid profiles, insulin sensitivity, presence of metabolic syndrome (MetS) and the abdominal fat distribution in karyotypically normal ...
    • Correlation Between DTI Findings and Volume of Corpus Callosum in Children with Autism 

      Temur, Hafize Otcu; YURTSEVER, İSMAİL; YEŞİL, GÖZDE; SHARIFOV, RASUL; Yilmaz, Fatih Temel; DÜNDAR, TOLGA TURAN; ALKAN, ALPAY (2019-01-01)
      Background: Autism Spectrum Disorder (ASD) is a complex developmental disorder in which neurological basis is largely unknown. The Corpus Callosum (CC) is the main commissure that connects the cerebral hemispheres. Previous ...
    • Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey 

      Zubarioglu, Tanyel; Kiykim, Ertugrul; YEŞİL, GÖZDE; Demircioglu, Duhan; Cansever, Mehmet Serif; Yalcinkaya, Cengiz; Aktuglu-Zeybek, Cigdem (2019-09-01)
      Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. In spite of subtle clinical signs beginning from childhood, CTX is generally diagnosed lately. The aim ...
    • Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature 

      Abali, Zehra Yavas; YEŞİL, GÖZDE; KIRKGÖZ, TARIK; KAYGUSUZ, SARE BETÜL; ELTAN, MEHMET; Turan, Serap; BEREKET, ABDULLAH; GÜRAN, TÜLAY (2019-06-01)
      Background Biallelic mutations in the TBX19 gene cause severe early-onset adrenal failure due to isolated ACTH deficiency (IAD). This rare disease is characterized by low plasma ACTH and cortisol levels, with normal secretion ...
    • Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease 

      Jolly, Angad; Bayram, Yavuz; Turan, Serap; Aycan, Zehra; Tos, Tulay; Abali, Zehra Yavas; Hacihamdioglu, Bulent; Akdemir, Zeynep Hande Coban; Hijazi, Hadia; Bas, Serpil; Atay, Zeynep; ABALI, Saygın; Guran, Tulay; Bas, Firdevs; Darendeliler, Feyza; Colombo, Roberto; Barakat, Tahsin Stefan; Rinne, Tuula; White, Janson J.; YEŞİL, GÖZDE; Gezdirici, Alper; Gulec, Elif Yilmaz; Karaca, Ender; Pehlivan, Davut; Jhangiani, Shalini N.; Muzny, Donna M.; Poyrazoglu, Sukran; Bereket, Abdullah; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R. (2019-08-01)
      Context: Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% of individuals with hyper-gonadotropic hypogonadism presenting as ...
    • Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy 

      İÇAĞASIOĞLU, DİLARA FÜSUN (2018-07-01)
      Background: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in ...
    • Familial amyloid polyneuropathy due to p.ALA140 ser mutation 

      GÜRSOY, Azize; YEŞİL, GÖZDE; ERGÜN, SELMA; Tosuner, ZEYNEP (2018-01-01)
    • Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease 

      Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Gambin, Tomasz; Akdemir, Zeynep Coban; Gonzaga-Jauregui, Claudia; Erdin, Serkan; Bayram, Yavuz; Campbell, Ian M.; Hunter, Jill V.; Atik, Mehmed M.; Van Esch, Hilde; Yuan, Bo; Wiszniewski, Wojciech; Isikay, Sedat; Yesil, Gozde; 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; Fenercioglu, Elif; Ulucan, Hakan; Seven, Mehmet; Guran, Tulay; Elcioglu, Nursel; Yildirim, Mahmut Selman; Aktas, Dilek; 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. (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 

      Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V. Reid; Yesil, Gozde; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R.; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Ha Lid; Alnaqeb, Dhekra; Alshammari, Muneera J.; Bayram, Yavuz; Atik, Mehmed M.; Aydin, Hatip; Geckinli, B. Bilge; 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. (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; Yildiz, Edibe Pembegul; Aydinli, Nur; Caliskan, Mine; Ozmen, Meral (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. ...
    • Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1 

      Gunes, Nilay; YEŞİL, GÖZDE; Beng, Kubilay; Kahraman, Sinan; Tuysuz, Beyhan (2018-01-01)
      Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in metaphyseal and diaphyseal parts of the long tubular ...
    • MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome) 

      Rad, Abolfazl; Altunoglu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N.; Caglayan, Ahmet Okay; Najafi, Maryam; Stanley, Valentina; Boustany, Rose-Mary; YEŞİL, GÖZDE; Sahebzamani, Afsaneh; Ercan-Sencicek, Gulhan; Saeidi, Kolsoum; Wu, Kaman; Bauer, Peter; Bakey, Zeineb; Gleeson, Joseph G.; Hauser, Natalie; Gunel, Murat; Kayserili, Hulya; Schmidts, Miriam (2019-05-01)
      Background Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, ...