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    • Generalised Periodic Epileptiform Discharges: Clinical Features, Neuroradiological Evaluation And Prognosis In 37 Adult Patients 

      Yemisci, M; Gurer, G; Saygi, S; Ciger, A (W B Saunders Co Ltd, 2003)
      Generalised periodic epileptiform discharges (GPEDs) are very rare patterns and are classified as periodic short-interval diffuse discharges (PSIDDs), periodic long-interval diffuse discharges (PLIDDs) and suppression-burst ...

    • Generation Of Chimeric “Abs Nanohemostat” Complex And Comparing Its Histomorphological In Vivo Effects To The Traditional Ankaferd Hemostat In Controlled Experimental Partial Nephrectomy Model 

      Huri, Emre; Beyazit, Yavuz; Mammadov, Rashad; Toksoz, Sila; Tekinay, Ayse B.; Guler, Mustafa O.; Ustun, Huseyin; Kekilli, Murat; Dadali, Mumtaz; Celik, Tugrul; Astarci, Müzeyyen; Haznedaroglu, Ibrahim C. (2013)
      Purpose. Using the classical Ankaferd Blood Stopper (ABS) solution to create active hemostasis during partial nephrectomy (PN) may not be so effective due to insufficient contact surface between the ABS hemostatic liquid ...

    • Generic Imatinib Mesylate Is As Effective As Original Glivec In The Clinical Management Of Cml 

      Malkan, Umit Y.; Aksu, Salih; Aktimur, Sude H.; Atay, Hilmi; Bektas, Ozlen; Buyukasik, Yahya; Demiroglu, Haluk; Eliacik, Eylem; Esme, Mert; Hacihanefioglu, Abdullah; Gunes, Gursel; Goker, Hakan; Karakus, Sema; Kilickap, Saadettin; Koca, Ebru; Ozcebe, Osman I.; Sayinalp, Nilgun; Tarkun, Pinar; Turgut, Mehmet; Haznedaroglu, Ibrahim C. (Akad Doktorlar Yayınevi, 2015)
      Unsustainable drug prices in chronic myeloid leukemia (CML) and cancer may be causing harm to patients. The aim of this multi-center study is to assess the efficacy of generic imatinib mesylate (IM) over Glivec in terms ...

    • Genes For Spinocerebellar Ataxia With Blindness And Deafness (Scabd/Scar3, Mim# 271250 And Scabd2) 

      Guissart, Claire; Drouot, Nathalie; Oncel, Ibrahim; Leheup, Bruno; Gershoni-Barush, Ruth; Muller, Jean; Ferdinandusse, Sacha; Larrieu, Lise; Anheim, Mathieu; Arslan, Elif Acar; Claustres, Mireille; Tranchant, Christine; Topaloglu, Haluk; Koenig, Michel (Nature Publishing Group, 2016)
      Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously reported the linkage of a novel syndrome, ataxia with blindness and deafness (SCAR3/SCABD, OMIM# 271250), to chromosome 6p21-p23 ...

    • 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. (Cell Press, 2015)
      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 ...

    • Genetic Analysis Of Chst6 And Tgfbi In Turkish Patients With Corneal Dystrophies: Five Novel Variations In Chst6 

      Yaylacioglu Tuncay, Fulya; Kayman Kurekci, Gülsüm; Guntekin Ergun, Sezen; Pasaoglu, Ozge Tugce; Akata, Rustu Fikret; Dincer, Pervin Rukiye (2016)
      Purpose To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). Methods In this study, patients ...

    • Genetic Architecture Distinguishes Systemic Juvenile Idiopathic Arthritis From Other Forms Of Juvenile Idiopathic Arthritis: Clinical And Therapeutic Implications 

      Ombrello, Michael J; Arthur, Victoria L; Remmers, Elaine F; Hinks, Anne; Tachmazidou, Ioanna; Grom, Alexei A; Foell, Dirk; Martini, Alberto; Gattorno, Marco; Özen, Seza; Prahalad, Sampath; Zeft, Andrew S; Bohnsack, John F; Ilowite, Norman T; Mellins, Elizabeth D; Russo, Ricardo; Len, Claudio; Hilario, Maria Odete E; Oliveira, Sheila; Yeung, Rae S M; Rosenberg, Alan M; Wedderburn, Lucy R; Anton, Jordi; Haas, Johannes-Peter; Rosen-Wolff, Angela; Minden, Kirsten; Tenbrock, Klaus; Demirkaya, Erkan; Cobb, Joanna; Baskin, Elizabeth; Signa, Sara; Shuldiner, Emily; Duerr, Richard H; Achkar, Jean-Paul; Kamboh, M Ilyas; Kaufman, Kenneth M; Kottyan, Leah C; Pinto, Dalila; Scherer, Stephen W; Alarcón-Riquelme, Marta E; Docampo, Elisa; Estivill, Xavier; Gül, Ahmet; Langefeld, Carl D; Thompson, Susan; Zeggini, Eleftheria; Kastner, Daniel L; Woo, Patricia; Thomson, Wendy (2017)
      Objectives Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic JIA (sJIA) is a rare form of JIA characterised ...

    • Genetic Association Study Of Exfoliation Syndrome Identifies A Protective Rare Variant At Loxl1 And Five New Susceptibility Loci 

      Aung, Tin; Ozaki, Mineo; Lee, Mei Chin; Schlotzer-Schrehardt, Ursula; Thorleifsson, Gudmar; Mizoguchi, Takanori; Igo, Robert P; Jr.; Haripriya, Aravind; Williams, Susan E.; Astakhov, Yury S.; Orr, Andrew C.; Burdon, Kathryn P.; Nakano, Satoko; Mori, Kazuhiko; Abu-Amero, Khaled; Hauser, Michael; Li, Zheng; Prakadeeswari, Gopalakrishnan; Bailey, Jessica N. Cooke; Cherecheanu, Alina Popa; Kang, Jae H.; Nelson, Sarah; Hayashi, Ken; Manabe, Shin-ichi; Kazama, Shigeyasu; Zarnowski, Tomasz; Inoue, Kenji; Irkec, Murat; Coca-Prados, Miguel; Sugiyama, Kazuhisa; Jarvela, Irma; Schlottmann, Patricio; Lerner, S. Fabian; Lamari, Hasnaa; Nilgun, Yildirim; Bikbov, Mukharram; Park, Ki Ho; Cha, Soon Cheol; Yamashiro, Kenji; Zenteno, Juan C.; Jonas, Jost B.; Kumar, Rajesh S.; Perera, Shamira A.; Chan, Anita S. Y.; Kobakhidze, Nino; George, Ronnie; Vijaya, Lingam; Do, Tan; Edward, Deepak P.; de Juan Marcos, Lourdes; Pakravan, Mohammad; Moghimi, Sasan; Ideta, Ryuichi; Bach-Holm, Daniella; Kappelgaard, Per; Wirostko, Barbara; Thomas, Samuel; Gaston, Daniel; Bedard, Karen; Greer, Wenda L.; Yang, Zhenglin; Chen, Xueyi; Huang, Lulin; Sang, Jinghong; Jia, Hongyan; Jia, Liyun; Qiao, Chunyan; Zhang, Hui; Liu, Xuyang; Zhao, Bowen; Wang, Ya-Xing; Xu, Liang; Leruez, Stephanie; Reynier, Pascal; Chichua, George; Tabagari, Sergo; Uebe, Steffen; Zenkel, Matthias; Berner, Daniel; Mossboeck, Georg; Weisschuh, Nicole; Hoja, Ursula; Welge-Luessen, Ulrich-Christoph; Mardin, Christian; Founti, Panayiota; Chatzikyriakidou, Anthi; Pappas, Theofanis; Anastasopoulos, Eleftherios; Lambropoulos, Alexandros; Ghosh, Arkasubhra; Shetty, Rohit; Porporato, Natalia; Saravanan, Vijayan; Venkatesh, Rengaraj; Shivkumar, Chandrashekaran; Kalpana, Narendran; Sarangapani, Sripriya; Kanavi, Mozhgan R.; Beni, Afsaneh Naderi; Yazdani, Shahin; Lashay, Alireza; Naderifar, Homa; Khatibi, Nassim; Fea, Antonio; Lavia, Carlo; Dallorto, Laura; Rolle, Teresa; Frezzotti, Paolo; Paoli, Daniela; Salvi, Erika; Manunta, Paolo; Mori, Yosai; Miyata, Kazunori; Higashide, Tomomi; Chihara, Etsuo; Ishiko, Satoshi; Yoshida, Akitoshi; Yanagi, Masahide; Kiuchi, Yoshiaki; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Aihara, Makoto; Inatani, Masaru; Miyake, Masahiro; Gotoh, Norimoto; Matsuda, Fumihiko; Yoshimura, Nagahisa; Ikeda, Yoko; Ueno, Morio; Sotozono, Chie; Jeoung, Jin Wook; Sagong, Min; Park, Kyu Hyung; Ahn, Jeeyun; Cruz-Aguilar, Marisa; Ezzouhairi, Sidi M.; Rafei, Abderrahman; Chong, Yaan Fun; Ng, Xiao Yu; Goh, Shuang Ru; Chen, Yueming; Yong, Victor H. K.; Khan, Muhammad Imran; Olawoye, Olusola O.; Ashaye, Adeyinka O.; Ugbede, Idakwo; Onakoya, Adeola; Kizor-Akaraiwe, Nkiru; Teekhasaenee, Chaiwat; Suwan, Yanin; Supakontanasan, Wasu; Okeke, Suhanya; Uche, Nkechi J.; Asimadu, Ifeoma; Ayub, Humaira; Akhtar, Farah; Kosior-Jarecka, Ewa; Lukasik, Urszula; Lischinsky, Ignacio; Castro, Vania; Perez Grossmann, Rodolfo; Megevand, Gordana Sunaric; Roy, Sylvain; Dervan, Edward; Silke, Eoin; Rao, Aparna; Sahay, Priti; Fornero, Pablo; Cuello, Osvaldo; Sivori, Delia; Zompa, Tamara; Mills, Richard A.; Souzeau, Emmanuelle; Mitchell, Paul; Wang, Jie Jin; Hewitt, Alex W.; Coote, Michael; Crowston, Jonathan G.; Astakhov, Sergei Y.; Akopov, Eugeny L.; Emelyanov, Anton; Vysochinskaya, Vera; Kazakbaeva, Gyulli; Fayzrakhmanov, Rinat; Al-Obeidan, Saleh A.; Owaidhah, Ohoud; Aljasim, Leyla Ali; Chowbay, Balram; Foo, Jia Nee; Soh, Raphael Q.; Sim, Kar Seng; Xie, Zhicheng; Cheong, Augustine W. O.; Mok, Shi Qi; Soo, Hui Meng; Chen, Xiao Yin; Peh, Su Qin; Heng, Khai Koon; Husain, Rahat; Ho, Su-Ling; Hillmer, Axel M.; Cheng, Ching-Yu; Escudero-Dominguez, Francisco A.; Gonzalez-Sarmiento, Rogelio; Martinon-Torres, Frederico; Salas, Antonio; Pathanapitoon, Kessara; Hansapinyo, Linda; Wanichwecharugruang, Boonsong; Kitnarong, Naris; Sakuntabhai, Anavaj; Nguyn, Hip X.; Nguyn, Giang T. T.; Nguyn, TrNh V.; Zenz, Werner; Binder, Alexander; Klobassa, Daniela S.; Hibberd, Martin L.; Davila, Sonia; Herms, Stefan; Nothen, Markus M.; Moebus, Susanne; Rautenbach, Robyn M.; Ziskind, Ari; Carmichael, Trevor R.; Ramsay, Michele; Alvarez, Lydia; Garcia, Montserrat; Gonzalez-Iglesias, Hector; Rodriguez-Calvo, Pedro P.; Fernandez-Vega Cueto, Luis; Oguz, Cilingir; Tamcelik, Nevbahar; Atalay, Eray; Batu, Bilge; Aktas, Dilek; Kasim, Burcu; Wilson, M. Roy; Coleman, Anne L.; Liu, Yutao; Challa, Pratap; Herndon, Leon; Kuchtey, Rachel W.; Kuchtey, John; Curtin, Karen; Chaya, Craig J.; Crandall, Alan; Zangwill, Linda M.; Wong, Tien Yin; Nakano, Masakazu; Kinoshita, Shigeru; den Hollander, Anneke I.; Vesti, Eija; Fingert, John H.; Lee, Richard K.; Sit, Arthur J.; Shingleton, Bradford J.; Wang, Ningli; Cusi, Daniele; Qamar, Raheel; Kraft, Peter; Pericak-Vance, Margaret A.; Raychaudhuri, Soumya; Heegaard, Steffen; Kivela, Tero; Reis, Andre; Kruse, Friedrich E.; Weinreb, Robert N.; Pasquale, Louis R.; Haines, Jonathan L.; Thorsteinsdottir, Unnur; Jonasson, Fridbert; Allingham, R. Rand; Milea, Dan; Ritch, Robert; Kubota, Toshiaki; Tashiro, Kei; Vithana, Eranga N.; Micheal, Shazia; Topouzis, Fotis; Craig, Jamie E.; Dubina, Michael; Sundaresan, Periasamy; Stefansson, Kari; Wiggs, Janey L.; Pasutto, Francesca; Khor, Chiea Chuen (Nature Publishing Group, 2017)
      Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further ...

    • Genetic Basis Of Cystinosis In Turkish Patients: A Single-Center Experience 

      Topaloglu, Rezan; Vilboux, Thierry; Coskun, Turgay; Ozaltin, Fatih; Tinloy, Brad; Gunay-Aygun, Meral; Bakkaloglu, Aysin; Besbas, Nesrin; van den Heuvel, Lambert; Kleta, Robert; Gahl, William A. (Springer, 2012)
      We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7-29 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Cystinosis was diagnosed at age 1 month ...

    • Genetic Basis Of Hyperlysinemia 

      Houten, Sander M; te Brinke, Heleen; Denis, Simone; Ruiter, Jos PN; Knegt, Alida C; de Klerk, Johannis BC; Augoustides-Savvopoulou, Persephone; Häberle, Johannes; Baumgartner, Matthias R; Coşkun, Turgay; Zschocke, Johannes; Sass, Jörn Oliver; Poll-The, Bwee Tien; Wanders, Ronald JA; Duran, Marinus (2013)
      Background Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better ...

    • Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing 

      Choi, Murim; Scholl, Ute I.; Ji, Weizhen; Liu, Tiewen; Tikhonova, Irina R.; Zumbo, Paul; Nayir, Ahmet; Bakkaloglu, Aysin; Ozen, Seza; Sanjad, Sami; Nelson-Williams, Carol; Farhi, Anita; Mane, Shrikant; Lifton, Richard P. (Natl Acad Sciences, 2009)
      Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ...

    • Genetic Landscape Of Congenital Myasthenic Syndromes From Turkey: Novel Mutations And Clinical Insights 

      Yis, Uluc; Becker, Kerstin; Kurul, Semra Hiz; Uyanik, Goekhan; Bayram, Erhan; Haliloglu, Goknur; Polat, Ayse Ipek; Ayanoglu, Muge; Okur, Derya; Tosun, Ayse Fahriye; Serdaroglu, Gul; Yilmaz, Sanem; Topaloglu, Haluk; Anlar, Banu; Cirak, Sebahattin; Engel, Andrew G. (Sage Publications Inc, 2017)
      Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the ...

    • Genetic Linkage Study Of Familial Mediterranean Fever (Fmf) To 16P13.3 And Evidence For Genetic Heterogeneity In The Turkish Population 

      Akarsu, AN; Saatci, U; Ozen, Seza; Bakkaloglu, A; Besbas, N; Sarfarazi, M (British Med Journal Publ Group, 1997)
      Familial Mediterranean fever (FMF) is an autosomal recessive condition that is almost entirely restricted to the non-Askhenazi Jews, Arabs, Armenians, and Turks. Genetic linkage study of a large group of non-Turkish families ...

    • Genetic Polymorphism Of Manganese Superoxide Dismutase In Behcet'S Disease 

      Uz, Efkan; Yilmaz, H. Ramazan; Yagci, Ramazan; Akyol, Ismail; Ersoy, Tugba; Sungur, Gulten; Yigit, Ayse; Duman, Sunay; Akyol, Omer (Turkish League Against Rheumatism, 2016)
      Objectives: This study aims to investigate the genetic association between single nucleotide mutation in mitochondrial manganese superoxide dismutase and a Behcet's disease (BD) population by using molecular techniques. ...

    • Genetic Risk Factors For Psoriasis In Turkish Population: -1540 C/A, -1512 Ins18, And +405 C/G Polymorphisms Within The Vascular Endothelial Growth Factor Gene 

      Bozduman, Tuba; Ersoy Evans, Sibel; Karahan, Sevilay; Hayran, Yildiz; Akbiyik, Filiz; Lay, Incilay (2016)

    • Genetic Screening In Adolescents With Steroid-Resistant Nephrotic Syndrome 

      Lipska, Beata S.; Iatropoulos, Paraskevas; Maranta, Ramona; Caridi, Gianluca; Ozaltin, Fatih; Anarat, Ali; Balat, Ayse; Gellermann, Jutta; Trautmann, Agnes; Erdogan, Ozlem; Saeed, Bassam; Emre, Sevinc; Bogdanovic, Radovan; Azocar, Marta; Balasz-Chmielewska, Irena; Benetti, Elisa; Caliskan, Salim; Mir, Sevgi; Melk, Anette; Ertan, Pelin; Baskin, Esra; Jardim, Helena; Davitaia, Tinatin; Wasilewska, Anna; Drozdz, Dorota; Szczepanska, Maria; Jankauskiene, Augustina; Serna Higuita, Lina Maria; Ardissino, Gianluigi; Ozkaya, Ozan; Kuzma-Mroczkowska, Elzbieta; Soylemezoglu, Oguz; Ranchin, Bruno; Medynska, Anna; Tkaczyk, Marcin; Peco-Antic, Amira; Akil, Ipek; Jarmolinski, Tomasz; Firszt-Adamczyk, Agnieszka; Dusek, Jiri; Simonetti, Giacomo D.; Gok, Faysal; Gheissari, Alaleh; Emma, Francesco; Krmar, Rafael T.; Fischbach, Michel; Printza, Nikoleta; Simkova, Eva; Mele, Caterina; Ghiggeri, Gian Marco; Schaefer, Franz (Elsevier Science Inc, 2013)
      Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent ...

    • Genetic Spectrum Of Hereditary Neuropathies With Onset In The First Year Of Life 

      Baets, Jonathan; Deconinck, Tine; De Vriendt, Els; Zimoń, Magdalena; Yperzeele, Laetitia; Van Hoorenbeeck, Kim; Peeters, Kristien; Spiegel, Ronen; Parman, Yesim; Ceulemans, Berten; Van Bogaert, Patrick; Pou-Serradell, Adolf; Bernert, Günther; Dinopoulos, Argirios; Auer-Grumbach, Michaela; Sallinen, Satu-Leena; Fabrizi, Gian Maria; Pauly, Fernand; Van den Bergh, Peter; Bilir, Birdal; Battaloglu, Esra; Madrid, Ricardo E.; Kabzińska, Dagmara; Kochanski, Andrzej; Topaloglu, Haluk; Miller, Geoffrey; Jordanova, Albena; Timmerman, Vincent; De Jonghe, Peter (2011)
      Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine–Sottas neuropathy starting in ...

    • Genetic Testing: Predictive Value Of Genotyping For Diagnosis And Management Of Disease 

      Özgüç, Meral (2011)
      This article describes predictive, preventive value of genetic tests and the implication of the use of testing for personalized treatment. This year marks the 10th anniversity of publishing of the sequence of the human ...

    • Genetic Variations In Attention Deficit Hyperactivity Disorder Subtypes And Treatment Resistant Cases 

      Unal, Dilek; Unal, Mehmet Fatih; Alikasifoglu, Mehmet; Cetinkaya, Arda (2016)
      Objective ObjectiveaaWe evaluated the distribution of alpha-2A adrenergic receptor (ADRA2A) and catechol-o-methyltransferase (COMT) single nucleotide polymorphisms (SNPs) among ADHD subtypes and other homogeneous patient ...

    • Genetic, Environmental, And Disease-Associated Correlates Of Vitamin D Status In Children With Ckd 

      Doyon, A; Schmiedchen, B; Sander, A; Bayazit, A; Duzova, A; Canpolat, N; Thurn, D; Azukaitis, K; Anarat, A; Bacchetta, J; Mir, S; Shroff, R; Yilmaz, E; Candan, C; Kemper, M; Fischbach, M; Cortina, G; Klaus, G; Wuttke, M; Köttgen, A; Melk, A; Querfeld, U; Schaefer, F. (2016)