• A Comparative Study of Alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests That The Hypoglycosylation of Alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity 

      Jimenez-Mallebrera, Cecilia; Torelli, Silvia; Feng, Lucy; Kim, Jihee; Godfrey, Caroline; Clement, Emma; Mein, Rachael; Abbs, Stephen; Brown, Susan C.; Campbell, Kevin P.; Kroeger, Stephan; Talim, Beril; Topaloglu, Haluk; Quinlivan, Ros; Roper, Helen; Childs, Anne M.; Kinali, Maria; Sewry, Caroline A.; Muntoni, Francesco (Wiley, 2009)
      Hypoglycosylation of alpha-dystroglycan underpins a subgroup of muscular dystrophies ranging from congenital onset of weakness, severe brain malformations and death in the perinatal period to mild weakness in adulthood ...
    • Allergen Immunotherapy For Allergic Asthma: A Systematic Review And Meta-Analysis 

      Dhami, S.; Kakourou, A.; Asamoah, F.; Agache, I.; Lau, S.; Jutel, M.; Muraro, A.; Roberts, G.; Akdis, C. A.; Bonini, M.; Cavkaytar, O.; Flood, B.; Gajdanowicz, P.; Izuhara, K.; Kalayci, O.; Mosges, R.; Palomares, O.; Pfaar, O.; Smolinska, S.; Sokolowska, M.; Asaria, M.; Netuveli, G.; Zaman, H.; Akhlaq, A.; Sheikh, A. (Wiley, 2017)
      BackgroundTo inform the development of the European Academy of Allergy and Clinical Immunology's (EAACI) Guidelines on Allergen Immunotherapy (AIT) for allergic asthma, we assessed the evidence on the effectiveness, ...
    • Aromatase Inhibitors In Breast Cancer: An Overview 

      Altundag, Kadri; Ibrahim, Nuhad K. (Wiley, 2006)
      We examined published reports on the use of aromatase inhibitors in postmenopausal patients with hormone receptor-positive breast cancer. Our data were obtained through a MEDLINE search of literature published in English. ...
    • Association Between Tumor Characteristics and Bone Mineral Density in Postmenopausal Breast Cancer Patients 

      Bayraktar, Soley; Avery, Tiffany; Altundag, Kadri; Broglio, Kristine; Arun, Banu K. (Wiley, 2013)
      The aim of this study was to evaluate the association of bone mineral density (BMD) at the time of diagnosis with clinical-pathologic findings in patients with operable postmenopausal breast cancer. One hundred and fifty-eight ...
    • Association of Macroeconomic Factors with Nonrelapse Mortality After Allogeneic Hematopoietic Cell Transplantation For Adults with Acute Lymphoblastic Leukemia: An Analysis From The Acute Leukemia Working Party of the EBMT 

      Giebel, Sebastian; Labopin, Myriam; Ibatici, Adalberto; Browne, Paul; Czerw, Tomasz; Socie, Gerard; Unal, Ali; Kyrcz-Krzemien, Slawomira; Bacigalupo, Andrea; Goker, Hakan; Potter, Mike; Furness, Caroline L.; McQuaker, Grant; Beelen, Dietrich; Milpied, Noel; Campos, Antonio; Craddock, Charles; Nagler, Arnon; Mohty, Mohamad (Wiley, 2016)
      Purpose. From a global perspective, the rates of allogeneic hematopoietic cell transplantation (alloHCT) are closely related to theeconomic status of acountry. However, a potential association with outcome has notyet been ...
    • Atypical Skin Graft-vs.-Host Disease Following Bone Marrow Transplantation in an Infant 

      Kuskonmaz, Baris; Gucer, Safak; Boztape, Gonca; Cetin, Mualla; Uckan, Duygu (Wiley, 2007)
      Herein, we describe an unusual presentation of acute graft versus host disease (GVHD) mimicking contact dermatitis in an infant who underwent 5/6 HLA-matched bone marrow transplantation (BMT) from his mother for malignant ...
    • Bone Marrow Mesenchymal Stem Cell Donors with a High Body Mass Index Display Elevated Endoplasmic Reticulum Stress and are Functionally Impaired 

      Ulum, Baris; Teker, H Taner; Sarikaya, Aysun; Balta, Gunay; Kuskonmaz, Baris; Uckan Cetinkaya, Duygu; Aerts Kaya, Fatma (Wiley, 2018)
      Bone marrow mesenchymal stem cells (BM‐MSCs) are promising candidates for regenerative medicine purposes. The effect of obesity on the function of BM‐MSCs is currently unknown. Here, we assessed how obesity affects the ...
    • Consensus Treatment Plans For Chronic Nonbacterial Osteomyelitis Refractory To Nonsteroidal Antiinflammatory Drugs And/Or With Active Spinal Lesions 

      Zhao, Yongdong; Wu, Eveline Y.; Oliver, Melissa S.; Cooper, Ashley M.; Basiaga, Matthew L.; Vora, Sheetal S.; Lee, Tzielan C.; Fox, Emily; Amarilyo, Gil; Stern, Sara M.; Dvergsten, Jeffrey A.; Haines, Kathleen A.; Rouster-Stevens, Kelly A.; Onel, Karen B.; Cherian, Julie; Hausmann, Jonathan S.; Miettunen, Paivi; Cellucci, Tania; Nuruzzaman, Farzana; Taneja, Angela; Barron, Karyl S.; Hollander, Matthew C.; Lapidus, Sivia K.; Li, Suzanne C.; Ozen, Seza; Girschick, Hermann; Laxer, Ronald M.; Dedeoglu, Fatma; Hedrich, Christian M.; Ferguson, Polly J. (Wiley, 2018)
      Objective. To develop standardized treatment regimens for chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), to enable comparative effectiveness treatment studies. ...
    • Decreased Activity And Genetic Polymorphisms Of Cyp2C19 In Behcet'S Disease 

      Goktas, Mustafa Tugrul; Karaca, Ragip Ozgur; Kalkisim, Said; Cevik, Lokman; Kilic, Levent; Akdogan, Ali; Babaoglu, Melih O.; Bozkurt, Atilla; Bertilsson, Leif; Yasar, Umit (Wiley, 2017)
      Behcet's disease (BD) is a systemic autoimmune disorder. Cytochrome P450 enzymes (CYPs) are responsible for various drug metabolism reactions as well as those of endogenous substances which may be associated with autoimmune ...
    • Do All Hemolytic Anemias That Occur After Mitral Valve Repair Require Surgical Treatment? 

      Gungunes, Askin; Akpinar, Ibrahim; Dogan, Mehmet; Baser, Kazim; Yildirim, Ismail Safa; Haznedaroglu, Ibrahim C. (Wiley, 2010)
      We report on a 29-year-old woman with severe hemolytic anemia following mitral valve annuloplasty. Although hemolysis due to mechanical prosthetic mitral valve is well recognized, hemolytic anemia associated with mitral ...
    • Do ANCA-associated vasculitides and IgG4-related disease really overlap or not? 

      Erden, Abdulsamet; Bolek, Ertugrul Cagri; Yardimci, Kubra Gozde; Kilic, Levent; Bilgen, Sule Apras; Karadag, Omer (Wiley, 2019-09-30)
      Background: Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) and immunoglobulin G4-related disease (IgG4-RD) have some common features. The co-occurrence/concurrence of AAV and IgG4-RD was recently ...
    • Early Onset Collagen Vi Myopathies: Genetic and Clinical Correlations 

      Brinas, Laura; Richard, Pascale; Quijano-Roy, Susana; Gartioux, Corine; Ledeuil, Celine; Lacene, Emmanuelle; Makri, Samira; Ferreiro, Ana; Maugenre, Svetlana; Topaloglu, Haluk; Haliloglu, Goknur; Penisson-Besnier, Isabelle; Jeannet, Pierre-Yves; Merlini, Luciano; Navarro, Carmen; Toutain, Annick; Chaigne, Denys; Desguerre, Isabelle; de Die-Smulders, Christine; Dunand, Murielle; Echenne, Bernard; Eymard, Bruno; Kuntzer, Thierry; Maincent, Kim; Mayer, Michele; Plessis, Ghislaine; Rivier, Francois; Roelens, Filip; Stojkovic, Tanya; Lia Taratuto, Ana; Lubieniecki, Fabiana; Monges, Soledad; Tranchant, Christine; Viollet, Louis; Romero, Norma B.; Estournet, Brigitte; Guicheney, Pascale; Allamand, Valerie (Wiley, 2010)
      Objective: Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and ...
    • Efns Guidelines On Diagnosis And Treatment Of Primary Dystonias 

      Albanese, A.; Asmus, F.; Bhatia, K. P.; Elia, A. E.; Elibol, B.; Filippini, G.; Gasser, T.; Krauss, J. K.; Nardocci, N.; Newton, A.; Valls-Sole, J. (Wiley, 2011)
      Objectives: To provide a revised version of earlier guidelines published in 2006. Background: Primary dystonias are chronic and often disabling conditions with a widespread spectrum mainly in young people. Diagnosis: Primary ...
    • Electronic Clinical Decision Support System For Allergic Rhinitis Management: Mask E-Cdss 

      Courbis, Anne-Lise; Murray, Ruth Brigid; Arnavielhe, Sylvie; Caimmi, Davide; Bedbrook, Anna; Van Eerd, Michiel; De Vries, Govert; Dray, Gerard; Agache, Ioana; Morais-Almeida, Mario; Bachert, Claus; Bergmann, Karl Christian; Bosnic-Anticevich, Sinthia; Brozek, Jan; Bucca, Caterina; Camargos, Paulo; Canonica, Giorgio Walter; Carr, Warner; Casale, Thomas; Fonseca, Joao A.; Haahtela, Tari; Kalayci, Omer; Klimek, Ludger; Kuna, Piotr; Kvedariene, Violeta; Larenas Linnemann, Desiree; Lieberman, Phil; Mullol, Joaquim; Ohehir, Robyn; Papadopoulos, Nikolaos; Price, David; Ryan, Dermot; Samolinski, Boleslaw; Simons, F. Estelle; Tomazic, Peter; Triggiani, Massimo; Valiulis, Arunas; Valovirta, Erkka; Wagenmann, Martin; Wickman, Magnus; Yorgancioglu, Arzu; Bousquet, Jean (Wiley, 2018)
      Background: Allergic rhinitis (AR) management has changed in recent years following the switch from the concept of disease severity to the concept of disease control, publication of the AR clinical decision support system ...
    • Evidence For Regulation Of Udp-Glucuronosyltransferase (Ugt) 1A1 Protein Expression And Activity Via Dna Methylation In Healthy Human Livers 

      Yasar, Umit; Greenblatt, David J.; Guillemette, Chantal; Court, Michael H. (Wiley, 2013)
      Objectives Interindividual variability in glucuronidation of bilirubin and drugs by UDP-glucuronosyltransferase 1A1 (UGT1A1) is considerable and only partially explained by genetic polymorphisms and enzyme inducers. Here ...
    • Expanding The Phenotypic Spectrum Of Ecel1-Related Congenital Contracture Syndromes 

      Shaaban, S.; Duzcan, F.; Yildirim, C.; Chan, W. -M.; Andrews, C.; Akarsu, N. A.; Engle, E. C. (Wiley, 2014)
      Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree ...
    • Functional Exhaustion Of Cd4(+) T Cells Induced By Co-Stimulatory Signals From Myeloid Leukaemia Cells 

      Ozkazanc, Didem; Yoyen-Ermis, Digdem; Tavukcuoglu, Ece; Buyukasik, Yahya; Esendagli, Gunes (Wiley, 2016)
      To cope with immune responses, tumour cells implement elaborate strategies such as adaptive resistance and induction of T-cell exhaustion. T-cell exhaustion has been identified as a state of hyporesponsiveness that arises ...
    • 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 ...
    • Homozygous Indel Mutation In Cdh11 As The Probable Cause Of Elsahy-Waters Syndrome 

      Taskiran, Ekim Z.; Karaosmanoglu, Beren; Kosukcu, Can; Dogan, Ozlem A.; Taylan-Sekeroglu, Hande; Simsek-Kiper, Pelin O.; Utine, Eda G.; Boduroglu, Koray; Alikasifoglu, Mehmet (Wiley, 2017)
      Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar ...
    • Hyperacute Graft-vs.-Host Disease After Related HLA-Identical Umbilical Cord Blood Transplantation 

      Kuskonmaz, Baris; Gocer, Safak; Ersoy-Ewans, Sibel; Cetin Ozman, Fatma; Cetin, Mualla (Wiley, 2007)
      haGVHD has been described following bone marrow and peripheral blood stem cell transplantation and in a single case who received unrelated HLA mismatched CB. An unusual case of haGVHD following HLA 6/6-matched sibling CBT ...