Browsing Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu by Publisher "Bmj Publishing Group"

Now showing items 1-14 of 14

    • Identification Of Loss-Of-Function Mutations Of Slc35D1 In Patients With Schneckenbecken Dysplasia, But Not With Other Severe Spondylodysplastic Dysplasias Group Diseases 

      Furuichi, T.; Kayserili, H.; Hiraoka, S.; Nishimura, G.; Ohashi, H.; Alanay, Y.; Lerena, J. C.; Aslanger, A. D.; Koseki, H.; Cohn, D. H.; Superti-Furga, A.; Unger, S.; Ikegawa, S. (Bmj Publishing Group, 2009)
      Background: Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal ...

    • Impact Of Gender On Event Rates At 1 Year In Patients With Newly Diagnosed Non-Valvular Atrial Fibrillation: Contemporary Perspective From The Garfield-Af Registry 

      Camm, A. John; Accetta, Gabriele; Al Mahmeed, Wael; Ambrosio, Giuseppe; Goldhaber, Samuel Z.; Haas, Sylvia; Jansky, Petr; Kayani, Gloria; Misselwitz, Frank; Oh, Seil; Oto, Ali; Raatikainen, Pekka; Steffel, Jan; van Eickels, Martin; Kakkar, Ajay K.; Lucas (Bmj Publishing Group, 2017)
      Objectives: Global Anticoagulant Registry in the FIELD-Atrial Fibrillation (GARFIELD-AF) explored the impact of gender, risk factors and anticoagulant (AC) treatment on 1-year outcomes in patients with nonvalvular atrial ...

    • Incidence, Risk Factors And Severity Of Retinopathy Of Prematurity In Turkey (Tr-Rop Study): A Prospective, Multicentre Study In 69 Neonatal Intensive Care Units 

      Bas, Ahmet Yagmur; Demirel, Nihal; Koc, Esin; Isik, Dilek Ulubas; Hirfanoglu, Ibrahim Murat; Tunc, Turan; Sari, Fatma Nur; Karatekin, Guner; Koklu, Esad; Altunhan, Huseyin; Turgut, Hatice; Narter, Fatma; Tarakci, Nuriye; Tekgunduz, Kadir Serafettin; Ozkiraz, Servet; Aydemir, Cumhur; Ozdemir, Ahmet; Cetinkaya, Bilin; Kazanci, Ebru; Tastekin, Ayhan; Calkavur, Sebnem; Ozyurt, Banu Mutlu; Demirelli, Yasar; Asker, Huseyin Selim; Mutlu, Birgul; Uygur, Ozgun; Ozkan, Hilal; Armangil, Didem; Ozlu, Ferda; Mert, Mustafa Kurthan; Ergin, Hacer; Ozcan, Beyza; Bas, Evrim Kiray; Okulu, Emel; Acunas, Betul; Celik, Ulker; Uslu, Sait Ilker; Mutlu, Mehmet; Demir, Nihat; Eroglu, Funda; Gokmen, Zeynel; Beken, Serdar; Bayraktar, Bilge Tanyeri; Hakan, Nilay; Kucuktasci, Kazim; Orman, Aysen; Comert, Serdar; Ertugrul, Sabahattin; Ustun, Nuran; Sahin, Ozlem; Terek, Demet; Kale, Yusuf; Konak, Murat; Yurttutan, Sadik; Aydemir, Ozge; Zenciroglu, Aysegul; Sarici, Dilek; Guzoglu, Nilufer; Hamilcikan, Sahin; Gursoy, Tugba; Tuzun, Funda; Ors, Rahmi; Arslan, Selda; Akdag, Arzu; Memisoglu, Asli; Yasa, Beril; Hekimoglu, Berna; Turan, Ozden; Aylanc, Hakan; Takci, Sahin; Celik, Tolga; Sahin, Suzan; Kilic, Ilknur; Kara, Caner; Tunay, Zuhal Ozen; Celik, Gokhan; Gozen, Ibrahim; Satirtav, Gunhal; Polat, Nihat; Oral, Ayse Yesim; Tokgoz, Mine; Keles, Sadullah; Bilgin, Burak; Ugurbas, Silay Canturk; Karaca, Cagatay; Keskek, Nedime Sahinoglu; Ekinci, Dilbade Yildiz; Balci, Ozlem; Altan, Emir Volkan; Bakbak, Sevda; Ceylan, Nihan Aksu; Kimyon, Sabit; Alyamac, Gunay; Ture, Gamze; Yildiz, Meral; Calis, Feyza; Sizmaz, Selcuk; Sukgen, Emine; Cetin, Ebru Nevin; Ozcimen, Muammer; Demir, Semra Tiryaki; Atila, Huban; Ozal, Altan; Tufaner, Gokhan; Yucel, Ozlem Eski; Kola, Mehmet; Seven, Erbil; Ozdek, Sengul; Durukan, Ali Hakan; Kal, Ali; Celebi, Ali Riza Cenk; Koytak, Ibrahim Arif; Alacamli, Goksu; Esme, Arif; Catak, Onur; Perente, Irfan; Sahin, Alparslan; Akcakaya, Aylin Ardagil; Kiray, Gulunay; Nalcaci, Serhat; Aksoy, Umit; Bakbak, Berker; Comez, Aysegul; Gursoy, Huseyin; Kabatas, Emrah Utku; Petricli, Ikbal Seza; Yumusak, Mehmet Erhan; Kirgiz, Ahmet; Uludag, Gunay; Yaman, Aylin; Dadaci, Zeynep; Karatas, Ali; Celiker, Hande; Cebeci, Zafer; Esenulku, Mahmut Cenap; Akkoyun, Imren; Ersan, Ismail; Demir, Selim; Kadayifcilar, Sibel; Unsal, Ayse Ipek Akyuz; Hocaoglu, Mumin (Bmj Publishing Group, 2018)
      Background To evaluate the prevalence, risk factors and treatment of retinopathy of prematurity (ROP) in Turkey and to establish screening criteria for this condition. Methods A prospective cohort study (TR-ROP) was performed ...

    • International Management Platform for Children'S Interstitial Lung Disease (Child-Eu) 

      Griese, Matthias; Seidl, Elias; Hengst, Meike; Reu, Simone; Rock, Hans; Anthony, Gisela; Kiper, Nural; Emiralioglu, Nagehan; Snijders, Deborah; Goldbeck, Lutz; Leidl, Reiner; Ley-Zaporozhan, Julia; Krueger-Stollfuss, Ingrid; Kammer, Birgit; Wesselak, Traudl; Eismann, Claudia; Schams, Andrea; Neuner, Doerthe; MacLean, Morag; Nicholson, Andrew G.; Lauren, McCann; Clement, Annick; Epaud, Ralph; de Blic, Jacques; Ashworth, Michael; Aurora, Paul; Calder, Alistair; Wetzke, Martin; Kappler, Matthias; Cunningham, Steve; Schwerk, Nicolaus; Bush, Andy (Bmj Publishing Group, 2018)
      Background Children's interstitial lung diseases (chILD) cover many rare entities, frequently not diagnosed or studied in detail. There is a great need for specialised advice and for internationally agreed subclassification ...

    • Joubert Syndrome: A Model for Untangling Recessive Disorders with Extreme Genetic Heterogeneity 

      Bachmann-Gagescu, R.; Dempsey, J. C.; Phelps, I. G.; O'Roak, B. J.; Knutzen, D. M.; Rue, T. C.; Ishak, G. E.; Isabella, C. R.; Gorden, N.; Adkins, J.; Boyle, E. A.; de Lacy, N.; O'Day, D.; Alswaid, A.; Ramadevi, Radha A.; Lingappa, L.; Lourenco, C.; Martorell, L.; Garcia-Cazorla, A.; Ozyurek, H.; Haliloglu, G.; Tuysuz, B.; Topcu, M.; Chance, P.; Parisi, M. A.; Glass, I. A.; Shendure, J.; Doherty, D. (Bmj Publishing Group, 2015)
      Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain ...

    • Novel Atp6V1B1 And Atp6V0A4 Mutations In Autosomal Recessive Distal Renal Tubular Acidosis With New Evidence For Hearing Loss 

      Stover, EH; Borthwick, KJ; Bavalia, C; Eady, N; Fritz, DM; Rungroj, N; Giersch, ABS; Morton, CC; Axon, PR; Akil, I; Al-Sabban, EA; Baguley, DM; Bianca, S; Bakkaloglu, A; Bircan, Z; Chauveau, D; Clermont, MJ; Guala, A; Hulton, SA; Kroes, H; Volti, GL; Mir, S; Mocan, H; Nayir, A; Ozen, Seza; Soriano, JR; Sanjad, SA; Tasic, V; Taylor, CM; Topaloglu, R; Smith, AN; Karet, FE (Bmj Publishing Group, 2002)
      Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokolaemia, decreased urinary calcium solubility, and impaired bone physiology and ...

    • Novel Mutations Consolidate Kctd7 As A Progressive Myoclonus Epilepsy Gene 

      Kousi, Maria; Anttila, Verneri; Schulz, Angela; Calafato, Stella; Jakkula, Eveliina; Riesch, Erik; Myllykangas, Liisa; Kalimo, Hannu; Topcu, Meral; Gokben, Sarenur; Alehan, Fusun; Lemke, Johannes R.; Alber, Michael; Palotie, Aarno; Kopra, Outi; Lehesjoki, Anna-Elina (Bmj Publishing Group, 2012)
      Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify ...

    • Paraspinal Mass in a Child 

      Berberoğlu, S; Aribal, ME; Arikan, U; İnce, A (Bmj Publishing Group, 1996)

    • Penetration of Topical, Oral, and Combined Administered Ofloxacin into the Subretinal Fluid 

      Cekic, O; Batman, C; Yasar, U; Totan, Y; Basci, NE; Bozkurt, A; Zilelioglu, O; Kayaalp, SO (Bmj Publishing Group, 1999)
      Aims-To assess the subretinal fluid (SRF) levels of ofloxacin following topical, oral or combined administration. Methods-31 patients undergoing conventional retinal reattachment surgery were randomly assigned to three ...

    • Pericardial Tamponade In A 65-Year-Old Woman - Hypothyroidism Complicated By Pericardial Tamponade. 

      Usalan, C; Atalar, E; Vural, FK (Bmj Publishing Group, 1999)

    • Retired Physicians: A Survey Study By The Turkish Medical Association 

      Gokce-Kutsal, Y; Ozcakar, L; Arslan, S; Sayek, F (Bmj Publishing Group, 2004)
      Background: The aim of this study was to assess the quality of life of retired Turkish physicians. The focus was on their working conditions, their health status, and the impact of their disabilities on activities of daily ...

    • Selectin Adhesion Molecules in Behcet's Disease 

      Haznedaroglu, S; Karaaslan, Y; Buyukasik, Y; Kosar, A; Ozcebe, OI; Haznedaroglu, IC; Kirazli, S; Dundar, SV (Bmj Publishing Group, 2000)
      Objectives-The pathogenesis of Behcet's disease (BD) is closely related to endothelial cells, leucocyte functions and autoimmunity. The aim of this study was to investigate circulating selectin adhesion molecules, which ...

    • Spectrum And Clinical Implications Of Syntaxin 11 Gene Mutations In Familial Haemophagocytic Lymphohistiocytosis: Association With Disease-Free Remissions And Haematopoietic Malignancies 

      Rudd, E; Ericson, KG; Zheng, C; Uysal, Z; Ozkan, A; Gurgey, A; Fadeel, B; Nordenskjold, M; Henter, JI (Bmj Publishing Group, 2006)
      Objective: To determine the frequency and spectrum of mutations in the gene encoding syntaxin 11 (STX11) in familial haemophagocytic lymphohistiocytosis (FHL), a rare autosomal recessive disorder of immune dysregulation ...

    • Successful Surgical Repair of Congenital Total Cleft Sternum with Partial Ectopia Cordis 

      AYTAC, A; SAYLAM, A (Bmj Publishing Group, 1976)