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Toplam kayıt 2912, listelenen: 1064-1083

    • Evidence Based Recommendations For Genetic Diagnosis Of Familial Mediterranean Fever 

      Giancane, Gabriella; Haar, Nienke Ter; Wulffraat, Nico; Vastert, Bas; Barron, Karyl; Hentgen, Veronique; Tilmann, Kallinich; Ozdogan, Huri; Lopez, Jordi Anton; Brogan, Paul; Cantarini, Luca; Frenkel, Joost; Galeotti, Caroline; Gattorno, Marco; Grateau, Gilles; Hofer, Michael; Kone-Paut, Isabelle; Kuemmerle-Deschner, Jasmin; Lachmann, Helen; Simon, Anna; Feldman, Brian; Uziel, Yosef; Ozen, Seza (2014)

    • Evidence Based Recommendations For The Management Of Enteropathic Arthritis: A Rheumatology, Gastroenterology Collaborative Initiative 

      Hatemi, Gulen; Akar, Servet; Akpinar, Hale; Atagunduz, Pamir; Bengi, Goksel; Can, Gercek; Celik, Aykut Ferhat; Esatoglu, Sinem Nihal; Gercik, Onay; Hamzaoglu, Hulya; Inanc, Murat; Kabacam, Gokhan; Kalkan, IsmailHakki; Kilic, Levent; Onen, Fatos; Tezel, Ahmet; Toruner, Murat; Kiraz, Sedat (2019)

    • Evidence For Regulation Of Udp-Glucuronosyltransferase (Ugt) 1A1 Protein Expression And Activity Via Dna Methylation In Healthy Human Livers 

      Yasar, Umit; Greenblatt, David J.; Guillemette, Chantal; Court, Michael H. (Wiley, 2013)
      Objectives Interindividual variability in glucuronidation of bilirubin and drugs by UDP-glucuronosyltransferase 1A1 (UGT1A1) is considerable and only partially explained by genetic polymorphisms and enzyme inducers. Here ...

    • Evidence From Autoimmune Thyroiditis Of Skewed X-Chromosome Inactivation In Female Predisposition To Autoimmunity 

      Ozcelik, T; Uz, E; Akyerli, CB; Bagislar, S; Mustafa, CA; Gursoy, A; Akarsu, N; Toruner, G; Kamel, N; Gullu, S (Nature Publishing Group, 2006)
      The etiologic factors in the development of autoimmune thyroid diseases (AITDs) are not fully understood. We investigated the role of skewed X-chromosome inactivation (XCI) mosaicism in female predisposition to AITDs. One ...

    • 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 ...

    • 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 ...

    • 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 ...

    • 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 ...

    • Expansion Of The Rib Head: A Novel Computed Tomographic Feature Of Supernumerary Intrathoracic Ribs 

      Kabakus, I.M; Atceken, Z; Ariyurek, O.M. (2017)

    • 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 ...

    • Experience With Nuclear Medicine Information System 

      Volkan-Salanci, Bilge; Şahin, Figen; Babekoğlu, Vahide; Uğur, Ömer (2012)
      Objective: Radiology information system (RIS) is basically evolved for the need of radiologists and ignores the vital steps needed for a proper work flow of Nuclear Medicine Department. Moreover, CT/MRI oriented classical ...

    • Expert Consensus On Dynamics Of Laboratory Tests For Diagnosis Of Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis 

      Ravelli, Angelo; Minoia, Francesca; Davì, Sergio; Horne, AnnaCarin; Bovis, Francesca; Pistorio, Angela; Aricò, Maurizio; Avcin, Tadej; Behrens, Edward M.; De Benedetti, Fabrizio; Filipovic, Alexandra; Grom, Alexei A.; Henter, Jan-Inge; Ilowite, Norman T.; Jordan, Michael B.; Khubchandani, Raju; Kitoh, Toshiyuki; Lehmberg, Kai; Lovell, Daniel J.; Miettunen, Paivi; Nichols, Kim E.; Ozen, Seza; Schmid, Jana Pachlopnik; Ramanan, Athimalaipet V.; Russo, Ricardo; Schneider, Rayfel; Sterba, Gary; Uziel, Yosef; Wallace, Carol; Wouters, Carine; Wulffraat, Nico; Demirkaya, Erkan; Brunner, Hermine I.; Martini, Alberto; Ruperto, Nicolino; Cron, Randy Q.; Angioloni, S; Pallotti, C; Pesce, M; Rinaldi, M; Villa, L; Abinun, M; Aggarwal, A; Akikusa, J; Al-Mayouf, S.M; Alessio, M; Anton, J; Apaz, M.T; Astigarraga, I; Ayaz, N.A; Barone, P; Bica, B; Bolt, I; Breda, L; Chasnyk, V; Cimaz, R; Corona, F; Cuttica, R; D'Angelo, G; Davidsone, Z; De Cunto, C; De Inocencio, J; Eisenstein, E; Enciso, S; Espada, G; Fischbach, M; Frosch, M; Gallizzi, R; Gamir, M.L; Gao, Y.-J; Griffin, T; Hashad, S; Hennon, T; Horneff, G; Huasong, Z; Huber, A; Insalaco, A; Ioseliani, M; Jelusic-Drazic, M; Jeng, M; Kapovic, A; Kasapcopur, O; Kone-Paut, I; De Oliveira, S.K.F; Lattanzi, B; Lepore, L; Li, C; Lipton, J.M; Magni-Manzoni, S; Maritsi, D; McCurdy, D; Merino, R; Mulaosmanovic, V; Nielsen, S; Pal, P; Prahalad, S; Rigante, D; Rumba-Rozenfelde, I; Magalhaes, C.S; Sanner, H; Sawhney, S; Sewairi, W.M; Shakoory, B; Shenoi, S; Clovis, A.S; Stanevicha, V; Stine, K.C; Susic, G; Sztajnbok, F; Takei, S; Tezer, H; Trauzeddel, R; Tsitsami, E; Unsal, E; Vougiouka, O; Weaver, L.K; Weiss, J; Weitzman, S; Zletni, M. (2016)

    • Expression Of Myxovirus-Resistance Protein A: A Possible Marker Of Muscle Disease Activity And Autoantibody Specificities In Juvenile Dermatomyositis 

      Soponkanaporn, S.; Deakin, C. T.; Schutz, P. W.; Marshall, L. R.; Yasin, S. A.; Johnson, C. M.; Sag, E.; Tansley, S. L.; McHugh, N. J.; Wedderburn, L. R.; Jacques, T. S. (2019)
      Aims To evaluate the relationship between expression of myxovirus-resistance protein A (MxA) protein on muscle biopsies by immunohistochemistry and disease activity in juvenile dermatomyositis (JDM) patients. Also, another ...

    • Expression Profiles Of The Individual Genes Corresponding To The Genes Generated By Cytotoxicity Experiments With Bortezomib In Multiple Myeloma 

      Ghasemi, Mehdi; Alpsoy, Semih; Türk, Seyhan; Malkan, Ümit Y.; Atakan, Şükrü; Haznedaroğlu, İbrahim C.; Güneş, Gürsel; Gündüz, Mehmet; Yılmaz, Burak; Etgül, Sezgin; Aydın, Seda; Aslan, Tuncay; Sayınalp, Nilgün; Aksu, Salih; Demiroğlu, Haluk; Özcebe, Osman İ.; Büyükaşık, Yahya; Göker, Hakan (2016)
      Objective: Multiple myeloma (MM) is currently incurable due to refractory disease relapse even under novel anti-myeloma treatment. In silico studies are effective for key decision making during clinicopathological battles ...

    • Extensive Scanning Of The Calpain-3 Gene Broadens The Spectrum Of Lgmd2A Phenotypes 

      Piluso, G; Politano, L; Aurino, S; Fanin, M; Ricci, E; Ventriglia, VM; Belsito, A; Totaro, A; Saccone, V; Topaloglu, H; Nascimbeni, AC; Fulizio, L; Broccolini, A; Canki-Klain, N; Comi, LI; Nigro, G; Angelini, C; Nigro, V (B M J Publishing Group, 2005)
      Background: The limb girdle muscular dystrophies ( LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified ...