• Icone: An International Consortium Of Neuro Endovascular Centres 

      Raymond, J.; White, P.; Kallmes, D. F.; Spears, J.; Marotta, T.; Roy, D.; Guilbert, F.; Weill, A.; Nguyen, T.; Molyneux, A. J.; Cloft, H.; Cekirge, S.; Saatci, I.; Bracard, S.; Meder, J. -F.; Moret, J.; Cognard, C.; Qureshi, A. I.; Turk, A. S.; Berenstein, A. (Edizioni Centauro, 2008)
      The proliferation of new endovascular devices and therapeutic strategies calls for a prudent and rational evaluation of their clinical benefit. This evaluation must be done in an effective manner and in collaboration with ...
    • 'Ideal Criteria' For Starting Chronic Hemodialysis: Numbers, Symptoms Or An Alerting 'Traffic Light' System? 

      Arici, Mustafa (Karger, 2012)
      A definite criteria for starting chronic hemodialysis treatment is still lacking even after 50 years of regular hemodialysis treatment. Although none of the current guidelines have designated a certain glomerular filtration ...
    • Idelalisib At The Crossroads Of B-Cell Lymphoproliferative Disorders 

      Aksu, Salih; Ayyildiz, Orhan; Etgul, Sezgin; Goker, Hakan; Gunes, Gursel; Haznedaroglu, Ibrahim C.; Ilhan, Osman; Kaynar, Leyla G.; Malkan, Umit Y.; Ozdemir, Evren; Saydam, Guray; Sayinalp, Nilgun; Sahin, Fahri; Turgut, Mehmet; Unal, Ali (Akad Doktorlar Yayınevi, 2016)
      Phosphatidylinositol 3-kinases (PI3Ks) are considered as lipid kinases that are very active in the pathobiology of lymphoproliferative disorders (LPDs). Idelalisib, a selective inhibitor of the delta isoform of PI3K, ...
    • Identification Of A Founder Mutation In Tpm3 In Nemaline Myopathy Patients Of Turkish Origin 

      Lehtokari, Vilma-Lotta; Pelin, Katarina; Donner, Kati; Voit, Thomas; Rudnik-Schoeneborn, Sabine; Stoetter, Mechthild; Talim, Beril; Topaloglu, Haluk; Laing, Nigel G.; Wallgren-Pettersson, Carina (Nature Publishing Group, 2008)
      To date, six genes are known to cause nemaline (rod) myopathy (NM), a rare congenital neuromuscular disorder. In an attempt to find a seventh gene, we performed linkage and subsequent sequence analyses in 12 Turkish families ...
    • Identification Of A New Locus For A Peculiar Form Of Congenital Muscular Dystrophy With Early Rigidity Of The Spine, On Chromosome 1P35-36 

      Moghadaszadeh, B; Desguerre, I; Topaloglu, H; Muntoni, FN; Pavek, S; Sewry, C; Mayer, M; Fardeau, M; Tome, FMS; Guicheney, P (Univ Chicago Press, 1998)
      Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic ...
    • Identification Of Cant1 Mutations In Desbuquois Dysplasia 

      Huber, Celine; Oules, Benedicte; Bertoli, Marta; Chami, Mounia; Fradin, Melanie; Alanay, Yasemin; Al-Gazali, Lihadh I.; Ausems, Margreet G. E. M.; Bitoun, Pierre; Cavalcanti, Denise P.; Krebs, Alexander; Le Merrer, Martine; Mortier, Geert; Shafeghati, Yousef; Superti-Furga, Andrea; Robertson, Stephen P.; Le Goff, Carine; Muda, Andrea Onetti; Paterlini-Brechot, Patrizia; Munnich, Arnold; Cormier-Daire, Valerie (Cell Press, 2009)
      Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct ...
    • Identification Of Circulating Mog-Specific B Cells In Patients With Mog Antibodies 

      Winklmeier, Stephan; Schlüter, Miriam; Spadaro, Melania; Thaler, Franziska S.; Vural, Atay; Gerhards, Ramona; Macrini, Caterina; Mader, Simone; Kurne, Aslı; Inan, Berin; Karabudak, Rana; Özbay, Feyza Gül; Esendagli, Gunes; Hohlfeld, Reinhard; Kümpfel, Tania; Meinl, Edgar (2019)
      Objective To identify circulating myelin oligodendrocyte glycoprotein (MOG)-specific B cells in the blood of patients with MOG antibodies (Abs) and to determine whether circulating MOG-specific B cells are linked to levels ...
    • Identification Of Clinical And Simple Laboratory Variables Predicting Responsible Gastrointestinal Lesions In Patients With Iron Deficiency Anemia 

      Serefhanoglu, Songul; Buyukasik, Yahya; Emmungil, Hakan; Sayinalp, Nilgun; Haznedaroglu, Ibrahim Celalettin; Goker, Hakan; Aksu, Salih; Ozcebe, Osman Ilhami (2010)
      Iron deficiency anemia (IDA) is a frequent disorder. Also, it may be a sign of underlying serious diseases. Iron deficiency points to an occult or frank bleeding lesion when occurred in men or postmenopausal women. In this ...
    • Identification Of Kif21A Mutations As A Rare Cause Of Congenital Fibrosis Of The Extraocular Muscles Type 3 (Cfeom3) 

      Yamada, K; Chan, WM; Andrews, C; Bosley, TM; Sener, EC; Zwaan, JT; Mullaney, PB; Ozturk, BT; Akarsu, AN; Sabol, LJ; Demer, JL; Sullivan, TJ; Gottlob, I; Roggenkaemper, P; Mackey, DA; de Uzcategui, CE; Uzcategui, N; Ben-Zeev, B; Traboulsi, EI; Magli, A; de Berardinis, T; Gagliardi, V; Awasthi-Patney, S; Vogel, MC; Rizzo, JF; Engle, EC (Assoc Research Vision Ophthalmology Inc, 2004)
      PURPOSE. Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, ...
    • 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 ...
    • Identification Of Multiple Genetic Susceptibility Loci In Takayasu Arteritis 

      Saruhan-Direskeneli, Guher; Hughes, Travis; Aksu, Kenan; Keser, Gokhan; Coit, Patrick; Aydin, Sibel Z.; Alibaz-Oner, Fatma; Kamali, Sevil; Inanc, Murat; Carette, Simon; Hoffman, Gary S.; Akar, Servet; Onen, Fatos; Akkoc, Nurullah; Khalidi, Nader A.; Koening, Curry; Karadag, Omer; Kiraz, Sedat; Langford, Carol A.; McAlear, Carol A.; Ozbalkan, Zeynep; Ates, Askin; Karaaslan, Yasar; Maksimowicz-McKinnon, Kathleen; Monach, Paul A.; Ozer, Huseyin T.; Seyahi, Emire; Fresko, Izzet; Cefle, Ayse; Seo, Philip; Warrington, Kenneth J.; Ozturk, Mehmet A.; Ytterberg, Steven R.; Cobankara, Veli; Onat, A. Mesut; Guthridge, Joel M.; James, Judith A.; Tunc, Ercan; Duzgun, Nursen; Bicakcigil, Muge; Yentur, Sibel P.; Merkel, Peter A.; Direskeneli, Haner; Sawalha, Amr H. (Cell Press, 2013)
      Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association ...
    • Identification of Susceptibility Loci for Takayasu Arteritis Througha Large Multi-Ancestral Genome-Wide Association Study 

      Karadağ, Ömer; Ortiz-Fernández, Lourdes; Saruhan-Direskeneli, Güher; Alibaz-Oner, Fatma; Kaymaz-Tahra, Sema; Coit, Patrick; Kong, Xiufang; Kiprianos, Allan P; Maughan, Robert T; Kaymaz-Tahra, Sema; Coit, P; Kong, X; Kiprianos, AP; Maughan, RT; Aydin, SZ .; Aksu K,; Keser, G; Kamali, S; Cunninghame-Graham, DS,; Vyse, TJ,; Sun, Y,; Chen, H,; Grayson, PC,; Tombetti, E,; Jiang, L,; Sawalha , AH (Am J Hum Genet, 2020-12-11)
      Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered ...
    • Identification Of Susceptibility Loci In Il6, Rps9/Lilrb3, And An Intergenic Locus On Chromosome 21Q22 In Takayasu Arteritis In A Genome-Wide Association Study 

      Renauer, Paul A.; Saruhan-Direskeneli, Guher; Coit, Patrick; Adler, Adam; Aksu, Kenan; Keser, Gokhan; Alibaz-Oner, Fatma; Aydin, Sibel Z.; Kamali, Sevil; Inanc, Murat; Carette, Simon; Cuthbertson, David; Hoffman, Gary S.; Akar, Servet; Onen, Fatos; Akkoc, Nurullah; Khalidi, Nader A.; Koening, Curry; Karadag, Omer; Kiraz, Sedat; Langford, Carol A.; Maksimowicz-McKinnon, Kathleen; McAlear, Carol A.; Ozbalkan, Zeynep; Ates, Askin; Karaaslan, Yasar; Duzgun, Nursen; Monach, Paul A.; Ozer, Huseyin T. E.; Erken, Eren; Ozturk, Mehmet A.; Yazici, Ayten; Cefle, Ayse; Onat, Ahmet Mesut; Kisacik, Bunyamin; Pagnoux, Christian; Kasifoglu, Timucin; Seyahi, Emire; Fresko, Izzet; Seo, Philip; Sreih, Antoine G.; Warrington, Kenneth J.; Ytterberg, Steven R.; Cobankara, Veli; Cunninghame-Graham, Deborah S.; Vyse, Timothy J.; Pamuk, Omer N.; Tunc, S. Ercan; Dalkilic, Ediz; Bicakcigil, Muge; Yentur, Sibel P.; Wren, Jonathan D.; Merkel, Peter A.; Direskeneli, Haner; Sawalha, Amr H. (Wiley, 2015)
      Objective. Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis. Methods. ...
    • Identifying Candidate Items Towards The Development Of Classification Criteria For Chronic Nonbacterial Osteomyelitis (Cno) And Chronic Recurrent Multifocal Osteomyelitis (Crmo) 

      Oliver, Melissa; Wu, Eveline; Naden, Raymond; Hollander, Matthew; Ferguson, Polly; Dedeoglu, Fatma; Ozen, Seza; Zhao, Yongdong (2019)
    • Idiopathic Hypertrophic Cranial Pachymeningitis Associated With Intermediate Uveitis 

      Yaylali, Sevil Ari; Akcakaya, Aylin Ardagil; Isik, Nihal; Erbil, Hasan Hasbi; Olgun, Ali; Aslan, Zeki; Kansu, Tulay (Informa Healthcare, 2011)
      The authors report a case with idiopathic hypertrophic cranial pachymeningitis associated with intermediate uveitis. The patient complained of decreased vision in both eyes, especially the right. Ophthalmic examination ...
    • Ifosfamide And Doxorubicin Combination Chemotherapy For Recurrent Nasopharyngeal Carcinoma Patients 

      Dede, Didem Sener; Aksoy, Sercan; Cengiz, Mustafa; Gullu, Ibrahim; Altundag, Kadri (Asian Pacific Organization Cancer Prevention, 2012)
      Background: We assessed the efficacy and toxicity of ifosfamide and doxorubicin combination chemotherapy (CT) regimen retrospectively in Turkish patients with recurrent or metastatic nasopharyngeal carcinoma (NPC) previously ...
    • Ifosfamide, Idarubicin, And Etoposide In Relapsed/Refractory Hodgkin Disease Or Non-Hodgkin Lymphoma: A Salvage Regimen With High Response Rates Before Autologous Stem Cell Transplantation 

      Oyan, B; Koc, Y; Ozdemir, E; Kars, A; Turker, A; Tekuzman, G; Kansu, E (Elsevier Science Inc, 2005)
      To achieve long-term disease-free survival, high-dose therapy and autologous stem cell transplantation (ASCT) is the current standard approach in patients with relapsed or refractory Hodgkin disease (HD) or non-Hodgkin ...
    • Igg4-Related Sclerosing Disease With Mesenteric And Retroperitoneal Involvement 

      Yetkin, D.I; Onur, M.R; Karadag, O; Erden, A; Akpinar, E; Kosemehmetoglu, K. (2017)
    • IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database 

      van de Vosse, Esther; Haverkamp, Margje H.; Ramirez-Alejo, Noe; Martinez-Gallo, Monica; Blancas-Galicia, Lizbeth; Metin, Ayse; Garty, Ben Zion; Sun-Tan, Cagman; Broides, Arnon; de Paus, Roelof A.; Keskin, Ozlem; Cagdas, Deniz; Tezcan, Ilhan; Lopez-Ruzafa, Encarna; Arostegui, Juan I.; Levy, Jacov; Espinosa-Rosales, Francisco J.; Sanal, Ozden; Santos-Argumedo, Leopoldo; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; van Dissel, Jaap T.; Bustamante, Jacinta (Wiley, 2013)
      IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12R1 is a receptor chain of ...
    • IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis 

      Arthur, Victoria L.; Shuldiner, Emily; Remmers, Elaine F.; Hinks, Anne; Grom, Alexei A.; Foell, Dirk; Martini, Alberto; Gattorno, Marco; Ozen, Seza; Prahalad, Sampath; Zeft, Andrew S.; Bohnsack, John F.; Ilowite, Norman T.; Mellins, Elizabeth D.; Russo, Ricardo; Len, Claudio; Oliveira, Sheila; Yeung, Rae S. M.; Rosenberg, Alan M.; Wedderburn, Lucy R.; Anton, Jordi; Haas, Johannes-Peter; Roesen-Wolff, Angela; Minden, Kirsten; Szymanski, Ann Marie; Thomson, Wendy; Kastner, Daniel L.; Woo, Patricia; Ombrello, Michael J. (Wiley, 2018)
      Objective. To determine whether systemic juvenile idiopathic arthritis (JIA) susceptibility loci that were identified by candidate gene studies demonstrate association with systemic JIA in the largest study population ...