Başlık için Dahili Tıp Bilimleri Bölümü listeleme

Toplam kayıt 3839, listelenen: 1509-1528

    • 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 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 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 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 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)

    • Genişlemiş Spektrumlu Beta-Laktamaz (ESBL) Üreten Mikroorganizmalarla Gelişen Üriner Enfeksiyonlu Çocukların Klinik ve Laboratuvar Bulguları 

      Boyraz, Meryem Seda (Tıp Fakültesi, 2014)
      The urinary tract infections (UTI) caused by extended spectrum beta-lactamases (ESBL) producing microorganisms are an important general health problem. In this study, the community acquired UTI cases from 0-17 age group ...

    • Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder 

      Segurado, R; Detera-Wadleigh, SD; Levinson, DF; Lewis, CM; Gill, M; Nurnberg, JI; Craddock, N; DePaulo, JR; Baron, M; Gershon, ES; Ekholm, J; Cichon, S; Turecki, G; Claes, S; Kelsoe, JR; Schofield, PR; Badenhop, RF; Morissette, J; Coon, H; Blackwood, D; McInnes, LA; Foroud, T; Edenberg, HJ; Reich, T; Rice, JP; Goate, A; McInnis, MG; McMahon, FJ; Badner, JA; Goldin, LR; Bennett, P; Willour, VL; Zandi, PP; Liu, JJ; Gilliam, C; Juo, SH; Berrettini, WH; Yoshikawa, T; Peltonen, L; Lonnqvist, J; Nothen, MM; Schumacher, J; Windemuth, C; Rietschel, M; Propping, P; Maier, W; Alda, M; Grof, P; Rouleau, GA; Del-Favero, J; Van Broeckhoven, C; Mendlewicz, J; Adolfsson, R; Spence, MA; Luebbert, H; Adams, LJ; Donald, JA; Mitchell, PB; Barden, N; Shink, E; Byerley, W; Muir, W; Visscher, PM; Macgregor, S; Gurling, H; Kalsi, G; McQuillin, A; Escamilla, MA; Reus, VI; Leon, P; Freimer, NB; Ewald, H; Kruse, TA; Mors, O; Radhakrishna, U; Blouin, JL; Antonarakis, SE; Akarsu, N (Cell Press, 2003)
      Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an effort to identify regions ...

    • Genome-Wide Copy Number Variation In Sporadic Amyotrophic Lateral Sclerosis In The Turkish Population: Deletion Of Epha3 Is A Possible Protective Factor 

      Uyan, Özgün; Ömür, Özgür; Ağım, Zeynep Sena; Özoğuz, Aslıhan; Li, Hong; Parman, Yeşim; Deymeer, Feza; Oflazer, Piraye; Koç, Filiz; Tan, Ersin; Özçelik, Hilmi; Başak, A. Nazlı (2013)
      The genome-wide presence of copy number variations (CNVs), which was shown to affect the expression and function of genes, has been recently suggested to confer risk for various human disorders, including Amyotrophic Lateral ...

    • Genomic Resolution Of An Aggressive, Widespread, Diverse And Expanding Meningococcal Serogroup B, C And W Lineage 

      Lucidarme, Jay; Hill, Dorothea M.C.; Bratcher, Holly B.; Gray, Steve J.; du Plessis, Mignon; Tsang, Raymond S.W.; Vazquez, Julio A.; Taha, Muhamed-Kheir; Ceyhan, Mehmet; Efron, Adriana M.; Gorla, Maria C.; Findlow, Jamie; Jolley, Keith A.; Maiden, Martin C.J.; Borrow, Ray (2015)

    • Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency 

      Mayr, D; Langley, DB; Kuskonmaz, Baris; Uckan Çetinkaya, Duygu; Cagdas, Deniz; Barıs, S; Worley, I; Metin, A; Aytekin, E S; Atan, R; Kasap, N; Bal, S K; Dmytrus, J; Heredia, R J; Karasu, G; Torun, S H; Toyran, M; Karakoc-Aydiner, E; Christ, D; Uner, A; Oberndorfer, F; Schiefer, A I; Uzel, G; Deenick, E K; Keller, B; Warnatz, K; Neven, B (2021)
      Biallelic inactivating mutations in IL21R causes a combined immunodeficiency that is often complicated by cryptosporidium infections. While eight IL-21R-deficient patients have been reported previously, the natural course, ...

    • Genotype-Phenotype Analysis Of Human Frontoparietal Polymicrogyria Syndromes 

      Piao, XH; Chang, BS; Bodell, A; Woods, K; BenZeev, B; Topcu, M; Guerrini, R; Goldberg-Stern, H; Sztriha, L; Dobyns, WB; Barkovich, AJ; Walsh, CA (Wiley, 2005)
      Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP). To define the ...

    • Genotype-Phenotype Associations In Wt1 Glomerulopathy 

      Lipska, Beata S.; Ranchin, Bruno; Iatropoulos, Paraskevas; Gellermann, Jutta; Melk, Anette; Ozaltin, Fatih; Caridi, Gianluca; Seeman, Tomas; Tory, Kalman; Jankauskiene, Augustina; Zurowska, Aleksandra; Szczepanska, Maria; Wasilewska, Anna; Harambat, Jerome; Trautmann, Agnes; Peco-Antic, Amira; Borzecka, Halina; Moczulska, Anna; Saeed, Bassam; Bogdanovic, Radovan; Kalyoncu, Mukaddes; Simkova, Eva; Erdogan, Ozlem; Vrljicak, Kristina; Teixeira, Ana; Azocar, Marta; Schaefer, Franz (Nature Publishing Group, 2014)
      WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant ...