Recent Submissions

  • Effects of Sleep Disorders on Hemoglobin A1C Levels In Type 2 Diabetic Patients 

    Keskin, Ahmet; Ünalacak, Murat; Bilge, Uğur; Yıldız, Pınar; Güler, Seda; Selçuk, Engin Burak; Bilgin, Muzaffer (Wolters Kluwer, 2015)
    Background: Studies have reported the presence of sleep disorders in approximately 50–70% of diabetic patients, and these may contribute to poor glycemic control, diabetic neuropathy, and overnight hypoglycemia. The aim ...
  • Mefv Mutations In Systemic Jia 

    Aktay Ayaz, Nuray; Bilginer, Yelda; Ergüven, M.; Yılmaz, E.; Topaloglu, R.; Bakkaloglu, A; Ozen, S (BioMed Central, 2008)
    Background: Systemic form of juvenile idiopathic arthritis (JIA) is regarded as an autoinflammatory disease. Certain genetic polymorphisms in genes coding inflammatory proteins have been associated with the disease. On the ...
  • Determinants Of Early Initiation Of Breastfeeding In Nigeria: A Population-Based Study Using The 2013 Demograhic And Health Survey Data 

    Berde, Anselm S.; Yalcin, Siddika Songül (BioMed Central, 2016)
    Background Provision of mother’s breast milk to infants within one hour of birth is referred to as Early Initiation of Breast Feeding (EIBF) which is an important strategy to reduce perinatal and infant morbidities and ...
  • A Study Examining Compliance With The Anti-Tobacco Law Nb. 4207 Inside Taxis 

    Öztürk, B.; Kosku, H.; Güven, İ.; Erdoğan, B.; Sarıtaş, Ö.; Şanver, T.; Aslan, D. (Aves, 2017)
    OBJECTIVES: This observational study assessed compliance with the anti-tobacco Law Nb 4207 with regard to taxis in Çankaya district, Ankara. MATERIAL AND METHODS: This descriptive study was conducted in Kızılay, Kuğulu, ...
  • Mefv Mutations In Systemic Onset Juvenile Idiopathic Arthritis 

    Aktay Ayaz, Nuray; Özen, Seza; Bilginer, Y.; Ergüven, M.; Taşkiran, E.; Yilmaz, E.; Beşbaş, N.; Bakkaloǧlu, A.; Topaloǧlu, R. (Oxford University, 2009)
    Objectives. Autoinflammatory diseases constitute a large spectrum of monogenic diseases like FMF or cryopyrin-associated periodic syndromes (CAPS) and complex genetic trait diseases such as systemic onset juvenile idiopathic ...
  • Aspiration Sclerotherapy: A Simple Endoscopic Modification For Sclerotherapy Of Esophageal Varices 

    Akcan, Y; Arslan, S (Georg Thieme Verlag, 1998)
    Endoscopic injection sclerotherapy has been accepted as the procedure of choice for patients with variceal hemorrhage. To evaluate the efficiency of endoscopic injection sclerotherapy in patients with bleeding esophageal ...
  • Is Serum High-Mobility Group Box 1 (Hmgb-1) Level Correlated With Liver Fibrosis In Chronic Hepatitis B? 

    Inkaya, Ahmet Cagkan; Aktug, Nazlim; Kolgelier, Servet; Sumer, Sua; Demir, Lutfi Saltuk; Ural, Onur; Pehlivan, Fatma Seher; Aslan, Mahmure; Arpaci, Abdullah (Wolters Kluwer, 2017)
    Background: High-mobility group box 1 (HMGB1), identified as an alarmin molecule, was shown to have a role in virus-triggered liver injury. We aimed to evaluate the association between serum levels of HMGB1 and liver ...
  • Successful Ocreotide And Medium-Chain Triglyceride Therapy For Cylothorax In A Patient With Noonan Syndrome: Case Report 

    Beder, Sumru; Ersoy, Zinet Gui; Gullu, Emine; Utine, G. Eda; Kayacan, Oya; Karnak, Demet (Ortadogu Ad Pres & Publ Co, 2010)
    Noonan syndrome (NS), is an autosomal dominant disorder commonly seen in childhood and is characterized by short stature, congenital heart defects and facial abnormalities (especially in adults) along with thoracic deformity. ...
  • Splicing Defects In The Ataxia-Telangiectasia Gene, Atm: Underlying Mutations And Consequences 

    Teraoka, SN; Telatar, M; Becker-Catania, S; Liang, T; Onengut, S; Tolun, A; Chessa, L; Sanal, O; Bernatowska, E; Gatti, RA; Concannon, P (Cell Press, 1999)
    Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation ...
  • Spinal Muscular Atrophy Associated With Progressive Myoclonic Epilepsy Is Caused By Mutations In Asah1 

    Zhou, Jie; Tawk, Marcel; Tiziano, Francesco Danilo; Veillet, Julien; Bayes, Monica; Nolent, Flora; Garcia, Virginie; Servidei, Serenella; Bertini, Enrico; Castro-Giner, Francesc; Renda, Yavuz; Carpentier, Stephane; Andrieu-Abadie, Nathalie; Gut, Ivo; Levade, Thierry; Topaloglu, Haluk; Melki, Judith (Cell Press, 2012)
    Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated ...
  • Spectrum Of Perforin Gene Mutations In Familial Hemophagocytic Lymphohistiocytosis 

    Ericson, KG; Fadeel, B; Nilsson-Ardnor, S; Soderhall, C; Samuelsson, A; Janka, G; Schneider, M; Gurgey, A; Yalman, N; Revesz, T; Egeler, RM; Jahnukainen, K; Storm-Mathiesen, I; Haraldsson, A; Poole, J; de Saint Basile, G; Nordenskjold, M; Henter, JI (Cell Press, 2001)
    Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes ...
  • Speg Interacts With Myotubularin, And Its Deficiency Causes Centronuclear Myopathy With Dilated Cardiomyopathy 

    Agrawal, Pankaj B.; Pierson, Christopher R.; Joshi, Mugdha; Liu, Xiaoli; Ravenscroft, Gianina; Moghadaszadeh, Behzad; Talabere, Tiffany; Viola, Marissa; Swanson, Lindsay C.; Haliloglu, Goknur; Talim, Beril; Yau, Kyle S.; Allcock, Richard J. N.; Laing, Nigel G.; Perrella, Mark A.; Beggs, Alan H. (Cell Press, 2014)
    Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in ...
  • Sequence Analysis And Homology Modeling Suggest That Primary Congenital Glaucoma On 2P21 Results From Mutations Disrupting Either The Hinge Region Or The Conserved Core Structures Of Cytochrome P4501B1 

    Stoilov, I; Akarsu, AN; Alozie, I; Child, A; Barsoum-Homsy, M; Turacli, ME; Or, M; Lewis, RA; Ozdemir, N; Brice, G; Aktan, SG; Chevrette, L; Coca-Prados, M; Sarfarazi, M (Cell Press, 1998)
    We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21. This could be the first direct ...
  • Recurrent Viral Infections Associated With A Homozygous Coro1A Mutation That Disrupts Oligomerization And Cytoskeletal Association 

    Yee, Christina S.; Massaad, Michel J.; Bainter, Wayne; Ohsumi, Toshiro K.; Foeger, Niko; Chan, Andrew C.; Akarsu, Nurten A.; Aytekin, Caner; Ayvaz, Deniz Cagdas; Tezcan, Ilhan; Sanal, Ozden; Geha, Raif S.; Chou, Janet (Mosby-Elsevier, 2016)
    Background: Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T-B+ natural killer-positive severe combined immunodeficiency or T-cell lymphopenia with severe ...
  • Neocentric Small Supernumerary Marker Chromosomes (Ssmc) - Three More Cases And Review Of The Literature 

    Liehr, T.; Utine, G. E.; Trautmann, U.; Rauch, A.; Kuechler, A.; Pietracz, J.; Bocian, E.; Kosyakova, N.; Mrasek, K.; Boduroglu, K.; Weise, A.; Aktas, D. (Karger, 2007)
    Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC( 13) and sSMC( 15) had inverted duplicated shapes and the sSMC( ...
  • Mutations In The Very Low-Density Lipoprotein Receptor Vldlr Cause Cerebellar Hypoplasia And Quadrupedal Locomotion In Humans 

    Ozcelik, Tayfun; Akarsu, Nurten; Uz, Elif; Caglayan, Safak; Gulsuner, Suleyman; Onat, Onur Emre; Tan, Meliha; Tan, Uner (Natl Acad Sciences, 2008)
    Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds ...
  • Mutations In Ripk4 Cause The Autosomal-Recessive Form Of Popliteal Pterygium Syndrome 

    Kalay, Ersan; Sezgin, Orhan; Chellappa, Vasant; Mutlu, Mehmet; Morsy, Heba; Kayserili, Hulya; Kreiger, Elmar; Cansu, Aysegul; Toraman, Bayram; Abdalla, Ebtesam Mohammed; Aslan, Yakup; Pillai, Shiv; Akarsu, Nurten A. (Cell Press, 2012)
    The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital ...
  • Mutations In Anks6 Cause A Nephronophthisis-Like Phenotype With Esrd 

    Taskiran, Ekim Z.; Korkmaz, Emine; Gucer, Safak; Kosukcu, Can; Kaymaz, Figen; Koyunlar, Cansu; Bryda, Elizabeth C.; Chaki, Moumita; Lu, Dongmei; Vadnagara, Komal; Candan, Cengiz; Topaloglu, Rezan; Schaefer, Franz; Attanasio, Massimo; Bergmann, Carsten; Ozaltin, Fatih (Amer Soc Nephrology, 2014)
    Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in <50% of patients. We performed genome-wide analysis followed by targeted ...
  • Mutations Affecting The Bhlha9 Dna-Binding Domain Cause Mssd, Mesoaxial Synostotic Syndactyly With Phalangeal Reduction, Malik-Percin Type 

    Malik, Sajid; Percin, Ferda E.; Bornholdt, Dorothea; Albrecht, Beate; Percesepe, Antonio; Koch, Manuela C.; Landi, Antonio; Fritz, Barbara; Khan, Rizwan; Mumtaz, Sara; Akarsu, Nurten A.; Grzeschik, Karl-Heinz (Cell Press, 2014)
    Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so far. We previously showed that the trait ...
  • Molecular And Clinical Spectrum Of Type I Plasminogen Deficiency: A Series Of 50 Patients 

    Tefs, Katrin; Gueorguieva, Maria; Klammt, Juergen; Allen, Carl M.; Aktas, Dilek; Anlar, Fehim Y.; Aydogdu, Sultan D.; Brown, Deborah; Ciftci, Ergin; Contarini, Patricia; Dempfle, Carl-Erik; Dostalek, Miroslav; Eisert, Susanne; Gokbuget, Aslan; Gunhan, Omer; Hidayat, Ahmed A.; Hugle, Boris; Isikoglu, Mete; Irkec, Murat; Joss, Shelagh K.; Klebe, Sonja; Kneppo, Carolin; Kurtulus, Idil; Mehta, Rakesh P.; Ornek, Kemal; Schneppenheim, Reinhard; Seregard, Stefan; Sweeney, Elizabeth; Turtschi, Stephanie; Veres, Gabor; Zeitler, Petra; Ziegler, Maike; Schuster, Volker (Amer Soc Hematology, 2006)
    Severe type I plasminogen (PLG) deficiency has been causally linked to a rare chronic inflammatory disease of the mucous membranes that may be life threatening. Here we report clinical manifestations, PLG plasma levels, ...

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