• Evidence-Based Recommendations For Genetic Diagnosis Of Familial Mediterranean Fever 

      Giancane, Gabriella; Ter Haar, Nienke M.; Wulffraat, Nico; Vastert, Sebastiaan J.; Barron, Karyl; Hentgen, Veronique; Kallinich, Tilmann; Ozdogan, Huri; Anton, Jordi; Brogan, Paul; Cantarini, Luca; Frenkel, Joost; Galeotti, Caroline; Gattorno, Marco; Grateau, Gilles; Hofer, Michael; Kone-Paut, Isabelle; Kuemmerle-Deschner, Jasmin; Lachmann, Helen J.; Simon, Anna; Demirkaya, Erkan; Feldman, Brian; Uziel, Yosef; Ozen, Seza (BMJ, 2015)
      Familial Mediterranean fever (FMF) is a disease of early onset which can lead to significant morbidity. In 2012, Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) was launched with the aim of optimising ...
    • Evidence-Based Recommendations For The Management Of Knee Osteoarthritis: A Consensus Report Of The Turkish League Against Rheumatism 

      Tuncer, Tiraje; Cay, Hasan Fatih; Kacar, Cahit; Altan, Lale; Atik, Osman Sahap; Aydin, Ahmet Turan; Ayhan, F. Figen; Yanik, Burcu Corekci; Durmaz, Berrin; Eskiyurt, Nurten; Genc, Hakan; Kutsal, Yesim Gokce; Gunaydin, Rezzan; Hepguler, Simin; Hizmetli, Sami; Kaya, Taciser; Kurtais, Yesim; Olmez, Nese; Saridogan, Merih; Sindel, Dilsad; Tur, Birkan Sonel; Sutbeyaz, Serap; Sendur, Omer Faruk; Ugurlu, Hatice; Unlu, Zeliha (Turkish League Against Rheumatism, 2012)
      Objectives: Knee osteoarthritis (OA) is a common disease which causes pain, disability and great socioeconomic burden as a result. Turkish League Against Rheumatism (TLAR) initiated a project to prepare national, "evidence-based ...
    • Evolutionarily Dynamic Alternative Splicing Of Gpr56 Regulates Regional Cerebral Cortical Patterning 

      Bae, Byoung-Il; Tietjen, Ian; Atabay, Kutay D.; Evrony, Gilad D.; Johnson, Matthew B.; Asare, Ebenezer; Wang, Peter P.; Murayama, Ayako Y.; Im, Kiho; Lisgo, Steven N.; Overman, Lynne; Sestan, Nenad; Chang, Bernard S.; Barkovich, A. James; Grant, P. Ellen; Topcu, Meral; Politsky, Jeffrey; Okano, Hideyuki; Piao, Xianhua; Walsh, Christopher A. (Amer Assoc Advancement Science, 2014)
      The human neocortex has numerous specialized functional areas whose formation is poorly understood. Here, we describe a 15-base pair deletion mutation in a regulatory element of GPR56 that selectively disrupts human cortex ...
    • Ewing Sarcoma In An Infant And Review Of The Literature 

      Bedük-Esen, ÇS.; Gültekin, M.; Aydın, G.B.; Akyüz, C.; Oğuz, K.K.; Orhan, D.; Cengiz, M.; Gürkaynak, M.; Yıldız, F. (2019)
      Bedük Esen ÇS, Gültekin M, Aydın GB, Akyüz C, Karlı Oğuz K, Orhan D, Cengiz M, Gürkaynak M, Yıldız F. Ewing sarcoma in an infant and review of the literature. Turk J Pediatr 2019; 61: 760-764. Ewing sarcoma (ES) is a rare ...
    • Ewing'S Sarcoma Of The Mandible Misdiagnosed As Periodontal Inflammation: Report Of Three Cases 

      Balkaya, Eda; Bozkurt, Ceyhun; Aksu, Ali Emre; Ozmen, Selahattin; Incesoy-Ozdemir, Sonay; Sahin, Gurses (Turkish J Pediatrics, 2017)
      Ewing's sarcoma (ES) is the second most common childhood primary malignant tumor of the bone. The most popular locations of ES are long bones and pelvis. The involvement of the mandible is very rare in childhood. In last ...
    • Examination Of Inequality Of Life Span By Using The Gini Coefficient In The Turkish Population For The Period 1990-2008 

      Ozdemir, Pinar; Karabulut, Erdem; Mentes, Turhan (Aves Yayincilik, 2011)
      Objective: The aim of this study is to show that the Gini coefficient used in economics, particularly in exposing inequality in income levels can also be used in the field of health, especially for measuring inequality ...
    • Examination of İnfant Mortality Risk in Turkey With Spatio-Temporal Bayesian Models 

      Kılıç Yıldırım, Sade (Sağlık Bilimleri Enstitüsü, 2020)
      In this thesis, it was aimed to determine relative risk (RR) of infant mortality for each province in Turkey between 2009 and 2017 years by including the concepts of space, time and space-time interaction, to obtain risk ...
    • Examining Technopedagogical Knowledge Competencies Of Teachers In Terms Of Some Variables 

      Sezer, Baris (Elsevier Science Bv, 2015)
      This research was carried out for the purpose of investigating teachers' levels of technological pedagogical content knowledge (TPCK) competencies. In line with this aim, teachers' levels of TPCK competencies were studied ...
    • Exercise-Induced Anaphylaxis: A Case Report And Review Of The Literature 

      Esenboga, Saliha; Sekerel, Bulent Enis (2019)
      Exercise-induced anaphylaxis (EIAn) is a rare, unpredictable, and potentially fatal cause of anaphylaxis which occurs with physical exhaustion. To the best of our knowledge, here we report the first case of EIAn from Turkey ...
    • Exertional Dyspnoea And Nonproductive Cough In A 22-Year-Old Man 

      Usalan, C; Emri, S (British Med Journal Publ Group, 2000)
    • Exome Sequencing And Cis-Regulatory Mapping Identify Mutations In Mak, A Gene Encoding A Regulator Of Ciliary Length, As A Cause Of Retinitis Pigmentosa 

      Ozgul, Riza Koksal; Siemiatkowska, Anna M.; Yucel, Didem; Myers, Connie A.; Collin, Rob W. J.; Zonneveld, Marijke N.; Beryozkin, Avigail; Banin, Eyal; Hoyng, Carel B.; van den Born, L. Ingeborgh; Bose, Ron; Shen, Wei; Sharon, Dror; Cremers, Frans P. M.; Klevering, B. Jeroen; den Hollander, Anneke I.; Corbo, Joseph C. (Cell Press, 2011)
      A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the context of a genetically heterogeneous disease, retinitis ...
    • Exome Sequencing Reveals Cubilin Mutation As A Single-Gene Cause Of Proteinuria 

      Ovunc, Bugsu; Otto, Edgar A.; Vega-Warner, Virginia; Saisawat, Pawaree; Ashraf, Shazia; Ramaswami, Gokul; Fathy, Hanan M.; Schoeb, Dominik; Chernin, Gil; Lyons, Robert H.; Yilmaz, Engin; Hildebrandt, Friedhelm (Amer Soc Nephrology, 2011)
      In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively ...
    • Exon 2: Is It The Good Police In Familial Mediterranean Fever? 

      Bilge, Sule Yasar; Solmaz, Dilek; Senel, Soner; Emmungil, Hakan; Kilic, Levent; Oner, Sibel Yilmaz; Yidiz, Fatih; Yilmaz, Sedat; Bozkirli, Duygu Ersozlu; Tufan, Muge Aydin; Yilmaz, Sema; Yazisiz, Veli; Pehlivan, Yavuz; Bes, Cemal; Cetin, Gozde Yildirim; Erten, Sukran; Gonullu, Emel; Sahin, Fezan; Akar, Servet; Aksu, Kenan; Kalyoncu, Umut; Direskeneli, Haner; Erken, Eren; Kisacik, Bunyamin; Sayarlioglu, Mehmet; Cinar, Muhammed; Kasifoglu, Timucin; Sari, Ismail (2019)
      Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal ...
    • Exosomal Mirna Confers Chemo Resistance Via Targeting Cav1/P-Gp/M2-Type Macrophage Axis In Ovarian Cancer 

      Kanlikilicer, Pinar; Bayraktar, Recep; Denizli, Merve; Rashed, Mohammed H.; Ivan, Cristina; Aslan, Burcu; Mitra, Rahul; Karagoz, Kubra; Bayraktar, Emine; Zhang, Xinna; Rodriguez-Aguayo, Cristian; El-Arabey, Amr Ahmed; Kahraman, Nermin; Baydogan, Seyda; Ozkayar, Ozgur; Gatza, Michael L.; Ozpolat, Bulent; Calin, George A.; Sood, Anil K.; Lopez-Berestein, Gabriel (2018)
      Background Circulating miRNAs are known to play important roles in intercellular communication. However, the effects of exosomal miRNAs on cells are not fully understood. Methods To investigate the role of exosomal miR-1246 ...
    • Expanding The Phenotypic Spectrum Of Ecel1-Related Congenital Contracture Syndromes 

      Shaaban, S.; Duzcan, F.; Yildirim, C.; Chan, W. -M.; Andrews, C.; Akarsu, N. A.; Engle, E. C. (Wiley, 2014)
      Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree ...
    • Experience Of A Single Center With Congenital Hepatic Fibrosis: A Review Of The Literature 

      Shorbagi, Ali; Bayraktar, Yusuf (Baishideng Publishing Group Inc, 2010)
      Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. It is one of the ...