• 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 ...
    • 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 ...
    • Experimental Composite Tissue Transplantation Models 

      Siemionow, Maria; Nasir, Serdar (Springer-Verlag London Ltd, 2010)
      Advanced microsurgical techniques have allowed performing different composite tissue allotransplantations (CTA), although immunology and pharmacotherapy still have many unresolved questions. Different CTA models were ...
    • 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 Androgen Receptor, Epidermal Growth Factor Receptor, And Transforming Growth Factor Alpha In Salivary Duct Carcinoma 

      Fan, CY; Melhem, MF; Hosal, AS; Grandis, JR; Barnes, EL (Amer Medical Assoc, 2001)
      Background: Salivary duct carcinoma (SDC) is a rare, highly aggressive neoplasm that primarily affects the major salivary glands. It is a distinct clinicopathological entity characterized by its morphologic resemblance to ...
    • 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 ...
    • Extended Pelvic Lymph Node Dissection: Before Or After Radical Cystectomy? A Multicenter Study Of The Turkish Society Of Urooncology 

      Ozen, Haluk; Ugurlu, Ozgur; Baltaci, Sumer; Adsan, Oztug; Aslan, Guven; Can, Cavit; Gunaydin, Gurhan; Elhan, Atilla; Beduk, Yasar (2012)
      Purpose We aimed to ascertain the effects of performing extended pelvic lymph node dissection (PLND) on the duration of surgery, morbidity, and the number of lymph nodes removed when the dissection was performed before or ...
    • 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 ...
    • External Validation Of The Thoracic Revised Cardiac Risk Index In Patients Undergoing Lung Resection For Non-Small-Cell Lung Cancer Cardiac Risk Index In Lung Resections 

      Kumbasar, Ulas; Ancin, Burcu; Karakaya, Jale; Dikmen, Erkan; Demircin, Metin; Dogan, Riza (2019)
      Aim: The Thoracic Revised Cardiac Risk Index (ThRCRI) is a cardiac risk stratification tool specific to patients undergoing thoracic surgery. However, its usage is not accepted in routine practice yet. In this study, we ...
    • Extradural Hematoma After Continuous Extradural Anesthesia 

      Tekkok, IH; Cataltepe , O; Tahta , K; Bertan , V (Prof Sci Publ, 1991)
      We report a case of extradural haematoma occurring after extradural anaesthesia in an anticoagulated patient. The diagnosis was confirmed by magnetic resonance imaging and the haematoma was evacuated surgically. A search ...
    • Extradural Lumbosacral Cavernous Hemangioma 

      Tekkok, IH; Akpinar, G; Gungen, Y (Springer, 2004)
      Purely extradural cavernous hemangiomas of the spinal canal are extremely rare. Their occurrence at the lumbosacral level is a true exception. We describe a case of lumbosacral extradural hemangioma and review the behaviour ...
    • Eye Closure Sensitivity And Epileptic Syndromes: A Retrospective Study Of 26 Adult Cases 

      Sevgi, Eser Basak; Saygi, Serap; Ciger, Abdurrahman (W B Saunders Co Ltd, 2007)
      Purpose: The transient, mainly generalized, together with brief changes in EEG baseline immediately after eye closure, is called 'eye closure sensitivity' (ECS) which was first reported by Robinson in 1930 and there have ...
    • Ezrin Inhibition Up-Regulates Stress Response Gene Expression 

      Celik, Haydar; Bulut, Gulay; Han, Jenny; Graham, Garrett T.; Minas, Tsion Z.; Conn, Erin J.; Hong, Sung-Hyeok; Pauly, Gary T.; Hayran, Mutlu; Li, Xin; Ozdemirli, Metin; Ayhan, Ayse; Rudek, Michelle A.; Toretsky, Jeffrey A.; Uren, Aykut (Amer Soc Biochemistry Molecular Biology Inc, 2016)
      Ezrin is a member of the ERM (ezrin/radixin/moesin) family of proteins that links cortical cytoskeleton to the plasma membrane. High expression of ezrin correlates with poor prognosis and metastasis in osteosarcoma. In ...