• A Cadaveric Histological Investigation of the Prostate with Three-Dimensional Reconstruction for Better Results in Continence and Erectile Function After Radical Prostatectomy 

      Özdemir, M. B.; Eskicorapci, S. Y.; Baydar, D. E.; Cumhur, M.; Önderoglu, S.; Özen, H. (Nature Publishing Group, 2007)
      In this study our aim is to increase the understanding of the prostate and related organs anatomy for better continence and erectile function results after urological surgery. Prostate and related organs were dissected ...
    • A Comparative Study of Tissue Glue and Vicryl Suture For Conjunctival and Scleral Closure In Conventional 20-Gauge Vitrectomy 

      Batman, C.; Ozdamar, Y.; Mutevelli, S.; Sonmez, K.; Zilelioglu, G.; Karakaya, J. (Nature Publishing Group, 2009)
      Aim To describe the use of tissue glue to close scleral and conjunctival wounds, and to compare the clinical outcomes using tissue glue and vicryl suture for closing these areas in conventional 20-gauge (G) vitrectomy. ...
    • A Novel Graft Option After Pterygium Excision: Platelet-Rich Fibrin for Conjunctivoplasty 

      Cakmak, H. B.; Can, G. Dereli; Can, M. E.; Cagil, N. (Nature Publishing Group, 2017)
      Purpose To compare the surgical results, complications, and recurrence rates of primary pterygium excision with conjunctival autografts (CA) vs platelet-rich fibrin (PRF) grafts. Patients and methods A total of 35 eyes of ...
    • A Recurrent De Novo Mutation In Kcnc1 Causes Progressive Myoclonus Epilepsy 

      Muona, Mikko; Berkovic, Samuel F.; Dibbens, Leanne M.; Oliver, Karen L.; Maljevic, Snezana; Bayly, Marta A.; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E.; Hildebrand, Michael S.; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E.; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D.; Ozkara, Cigdem; Andrade, Danielle M.; Engelsen, Bernt A.; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, Joao; Privitera, Michael; Espay, Alberto J.; Kauffmann, Birgit; Duchowny, Michael; Moller, Rikke S.; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E.; Daly, Mark J.; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina (Nature Publishing Group, 2015)
      Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonicclonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown ...
    • Abdominal Distention and Peritoneal Effusion in a Female Swiss Albino Mouse 

      Kosemehmetoglu, Kemal; Ulu, Nadir; Iskit, Alper B.; Arıkan, Pınar F.; Sokmensuer, Cenk; Onur, Rustu; Guc, M. Oguz (Nature Publishing Group, 2007)
    • Allelic Variants in Genes Associated with Hereditary Periodic Fever Syndromes as Susceptibility Factors for Reactive Systemic AA Amyloidosis 

      Aganna, E; Hawkins, PN; Ozen, Seza; Pettersson, T; Bybee, A; McKee, S; Lachmann, H; Karenko, L; Ranki, A; Bakkaloglu, A; Besbas, N; Topaloglu, R; Hoffman, H; Hitman, G; Woo, P; McDermott, M (Nature Publishing Group, 2004)
      We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with ...
    • Allergy-Specific Phenome-Wide Association Study For Immunogenes In Turkish Children 

      Karaca, Sefayet; Civelek, Ersoy; Karaca, Mehmet; Sahiner, Umit M.; Ozgul, Riza K.; Kocabas, Can N.; Polimanti, Renato; Sekerel, Bulent E. (Nature Publishing Group, 2016)
      To dissect the role of immunogenetics in allergy and asthma, we performed a phenome-wide association study in 974 Turkish children selected from a cross-sectional study conducted using ISAAC (International Study of Asthma ...
    • Allogeneic Hematopoietic Sct For Adults Aml Using I.V. Bu In The Conditioning Regimen: Outcomes And Risk Factors For The Occurrence Of Hepatic Sinusoidal Obstructive Syndrome 

      Nagler, A.; Labopin, M.; Berger, R.; Bunjes, D.; Campos, A.; Socie, G.; Kroeger, N.; Goker, H.; Yakoub-Agha, I.; Shimoni, A.; Mohty, M.; Rocha, V. (Nature Publishing Group, 2014)
      I.v. BU is frequently used in the conditioning regimen prior to allogeneic hematopoietic SCT (allo-HSCT); however, overall outcomes, incidence of hepatic sinusoidal obstructive syndrome (SOS) and its risk factors are not ...
    • Alternative Methods For The Screening Of Retinopathy of Prematurity: Binocular Indirect Ophthalmoscopy Vs Wide-Field Digital Retinal Imaging 

      Şekeroglu, M. A.; Hekimoğlu, E.; Sekeroğlu, H. T.; Arslan, U. (Nature Publishing Group, 2013)
      Purpose To compare the diagnostic efficacy of wide-field digital retinal imaging (WFDRI) with binocular indirect ophthalmoscopy (BIO) for retinopathy of prematurity (ROP) screening. Methods Premature infants admitted for ...
    • Amblyopia And Sensory Features At Initial Presentation of Brown Syndrome: An Issue to Recognize 

      Sekeroglu, H. T.; Muz, E.; Sanac, A. S.; Sener, E. C.; Arslan, U. (Nature Publishing Group, 2013)
      Purpose To investigate the frequency of amblyopia and sensory features at initial presentation in patients who had unilateral congenital Brown syndrome (BS) and to identify the potential risk factors for amblyopia in BS. ...
    • Analysis of Centrosome and Dna Damage Response In Plk4 Associated Seckel Syndrome 

      Dinçer, Tuba; Yorgancıoğlu-Budak, Gülden; Ölmez, Akgün; Er, İdris; Dodurga, Yavuz; Özdemir, Özmert M. A.; Toraman, Bayram; Yıldırım, Adem; Sabır, Nuran; Akarsu, Nurten A.; Semerci, C. Nur; Kalay, Ersan (Nature Publishing Group, 2017)
      Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes ...
    • Bacteremic and Non-Bacteremic Pneumonia Caused by Acinetobacter Baumannii in Icus of South China: A Clinical and Microbiological Study 

      Tan, Yunfang; Zhou, Kai; Tang, Xiang; Kudinha, Timothy; Wang, Luxia; Guo, Zhenghui; Akova, Murat; Zhuo, Chao (Nature Publishing Group, 2017)
      Acinetobacter baumannii has been a dreadful problem for ICU physicians for a long time. Bacteremic pneumonia (BP) caused by this organism has a higher mortality compared to other organisms. Between 2012 and 2015, 86 BP and ...
    • Bacterial Infection Prevention After Hematopoietic Cell Transplantation 

      Engelhard, D.; Akova, M.; Boeckh, M. J.; Freifeld, A.; Sepkowitz, K.; Viscoli, C.; Wade, J.; Raad, I. (Nature Publishing Group, 2009)
    • Benefit Of High-Dose Methylprednisolone In Comparison With Conventional-Dose Prednisolone During Remission Induction Therapy In Childhood Acute Lymphoblastic Leukemia For Long-Term Follow-Up 

      Yetgin, S; Tuncer, MA; Cetin, M; Gumruk, F; Yenicesu, I; Tunc, B; Oner, AF; Toksoy, H; Koc, A; Aslan, D; Ozyorek, E; Olcay, L; Atahan, L; Tuncbilek, ET; Gurgey, A (Nature Publishing Group, 2003)
      Eight-year event-free survival (EFS) was evaluated in 205 patients with acute lymphoblastic leukemia (ALL), to consider the efficacy of high-dose methylprednisolone (HDMP) given during remission induction chemotherapy ...
    • Characterization Of Large Rearrangements In Autosomal Dominant Polycystic Kidney Disease And The Pkd1/Tsc2 Contiguous Gene Syndrome 

      Consugar, Mark B.; Wong, Wai C.; Lundquist, Patrick A.; Rossetti, Sandro; Kubly, Vickie J.; Walker, Denise L.; Rangel, Laureano J.; Aspinwall, Richard; Niaudet, W. Patrick; Ozen, Seza; David, Albert; Velinov, Milen; Bergstralh, Eric J.; Bae, Kyongtae T.; Chapman, Arlene B.; Guay-Woodford, Lisa M.; Grantham, Jared J.; Torres, Vicente E.; Sampson, Julian R.; Dawson, Brian D.; Harris, Peter C. (Nature Publishing Group, 2008)
      Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect. Autosomal dominant polycystic kidney disease ( ADPKD) is caused by ...
    • Combined Pituitary Hormone Deficiency Due To Gross Deletions In The Pou1F1 (Pit-1) And Prop1 Genes 

      Bertko, Eleonore; Klammt, Juergen; Dusatkova, Petra; Bahceci, Mithat; Gonc, Nazli; ten Have, Louise; Kandemir, Nurgun; Mansmann, Georg; Obermannova, Barbora; Oostdijk, Wilma; Pfaeffle, Heike; Rockstroh-Lippold, Denise; Schlicke, Marina; Tuzcu, Alpaslan Kemal; Pfaeffle, Roland (Nature Publishing Group, 2017)
      Pituitary development depends on a complex cascade of interacting transcription factors and signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone deficiency (CPHD). The aim of this ...
    • Cpg Methylation In The Fhit Regulatory Region: Relation To Fhit Expression In Murine Tumors 

      Han, SY; Iliopoulos, D; Druck, T; Guler, G; Grubbs, CJ; Pereira, M; Zhang, ZQ; You, M; Lubet, RA; Fong, LYY; Huebner, K (Nature Publishing Group, 2004)
      To determine if: (1) 5' CpG island methylation is related to Fhit inactivation; (2) there are tumor or carcinogen-specific methylation patterns, we examined 35 CpG sites in the promoter, exon and intron 1 of the mouse Fhit ...
    • De Novo Mutations In Smchd1 Cause Bosma Arhinia Microphthalmia Syndrome And Abrogate Nasal Development 

      Gordon, Christopher T.; Xue, Shifeng; Yigit, Goekhan; Filali, Hicham; Chen, Kelan; Rosins, Nadine; Yoshiura, Koh-ichiro; Oufadem, Myriam; Beck, Tamara J.; McGowan, Ruth; Magee, Alex C.; Altmueller, Janine; Dion, Camille; Thiele, Holger; Gurzau, Alexandra D.; Nuernberg, Peter; Meschede, Dieter; Muehlbauer, Wolfgang; Okamoto, Nobuhiko; Varghese, Vinod; Irving, Rachel; Sigaudy, Sabine; Williams, Denise; Ahmed, S. Faisal; Bonnard, Carine; Kong, Mung Kei; Ratbi, Ilham; Fejjal, Nawfal; Fikri, Meriem; Elalaoui, Siham Chafai; Reigstad, Hallvard; Bole-Feysot, Christine; Nitschke, Patrick; Ragge, Nicola; Levy, Nicolas; Tuncbilek, Goekhan; Teo, Audrey S. M.; Cunningham, Michael L.; Sefiani, Abdelaziz; Kayserili, Huelya; Murphy, James M.; Chatdokmaiprai, Chalermpong; Hillmer, Axel M.; Wattanasirichaigoon, Duangrurdee; Lyonnet, Stanislas; Magdinier, Frederique; Javed, Asif; Blewitt, Marnie E.; Amiel, Jeanne; Wollnik, Bernd; Reversade, Bruno (Nature Publishing Group, 2017)
      Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic ...
    • Erlin1 Mutations Cause Teenage-Onset Slowly Progressive Als In A Large Turkish Pedigree 

      Tunca, Ceren; Akcimen, Fulya; Coskun, Cemre; Gundogdu-Eken, Asli; Kocoglu, Cemile; Cevik, Betul; Bekircan-Kurt, Can Ebru; Tan, Ersin; Basak, A. Nazli (Nature Publishing Group, 2018)
      Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to ...
    • European Registration Process For Clinical Laboratory Geneticists In Genetic Healthcare 

      Liehr, Thomas; Carreira, Isabel M.; Aktas, Dilek; Bakker, Egbert; Rodriguez de Alba, Marta; Coviello, Domenico A.; Florentin, Lina; Scheffer, Hans; Rincic, Martina (Nature Publishing Group, 2017)
      Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these developments. To guarantee and improve the quality of genetic testing, ...