Now showing items 1-14 of 14

    • Analysis of MYH Tyr165Cys and Gly382Asp variants in childhood leukemias 

      Akyerli, C. B.; Özbek, U.; Aydin-Sayitoǧlu, M.; Sirma, S.; Özçelik, T. (Springer, 2003)
      [No abstract available]
    • Cognitive individualism and the child as scientist program 

      Wringe, B. (2011)
      In this paper, I examine the charge that Gopnik and Meltzoff's 'Child as Scientist' program, outlined and defended in their 1997 book Words, Thoughts and Theories is vitiated by a form of 'cognitive individualism' about ...
    • Design of a modular playground equipment system for physically (motor) disabled children 

      Sağdıç, Yaprak Savut (Bilkent University, 1993)
      The elements of a medium for gathering the able and disable bodied children are examined within the scope of this study. Starting from the importance of play for children, the characteristics and the properties of the ...
    • Diagnosis of gastric carcinoma by classification on feature projections 

      Güvenir, H. A.; Emeksiz, N.; İkizler, N.; Örmeci, N. (Elsevier, 2004)
      A new classification algorithm, called benefit maximizing classifier on feature projections (BCFP), is developed and applied to the problem of diagnosis of gastric carcinoma. The domain contains records of patients with ...
    • Evaluation of chimerism with DNA polymorphisms in bone marrow transplantation 

      Özbek, U.; Vural, B.; Kalayoǧlu, S.; Soysal, T.; Bilgen, H.; Yavuz, S.; Anak, S.; Sargın, D.; Gedikoǧlu G.; Ferhanoǧlu, Burhan; Akoǧlu, T.; Tangün, Y.; Özçelik, Tayfun (International Children's Center (I C C), 1997)
      Evaluation of chimeric status following allogenlc BMT is an Important tool for monitoring the replacement of host cells with donor cells and for determining the risk of relapse. Polymorphic DNA sequences can be used as ...
    • Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1 

      Ricciardone, M. D.; Özçelik, T.; Cevher, B.; Özdaǧ, H.; Tuncer, M.; Gürgey, A.; Uzunalimoǧlu, O.; Çetinkaya, H.; Tanyeli, A.; Erken, E.; Öztürk, M. (American Association for Cancer Research, 1999)
      Heterozygous germ-line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer. The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown. ...
    • Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis 

      Uz, E.; Mustafa, C.; Topaloglu, R.; Bilginer, Y.; Dursun, A.; Kasapcopur, O.; Ozen, S.; Bakkaloglu, A.; Ozcelik, T. (John Wiley & Sons, Inc., 2009)
      Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a ...
    • Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci 

      Sanders, S. J.; He, X.; Willsey, A. J.; Ercan-Sencicek, A. G.; Samocha, K. E.; Cicek, A. E.; Murtha, M. T.; Bal, V. H.; Bishop, S. L.; Dong, S.; Goldberg, A. P.; Jinlu, C.; Keaney, J. F.; Keaney III, J. F.; Mandell, J. D.; Moreno-De-Luca, D.; Poultney, C. S.; Robinson, E. B.; Smith L.; Solli-Nowlan, T.; Su, M. Y.; Teran, N. A.; Walker, M. F.; Werling, D. M.; Beaudet, A. L.; Cantor, R. M.; Fombonne, E.; Geschwind, D. H.; Grice, D. E.; Lord, C.; Lowe, J. K.; Mane, S. M.; Martin, D.M.; Morrow, E. M.; Talkowski, M. E.; Sutcliffe, J. S.; Walsh, C. A.; Yu, T. W.; Ledbetter, D. H.; Martin, C. L.; Cook, E. H.; Buxbaum, J. D.; Daly, M. J.; Devlin, B.; Roeder, K.; State, M. W. (Cell Press, 2015)
      Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, ...
    • Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction 

      Bonora, E.; Bianco, F.; Cordeddu, L.; Bamshad, M.; Francescatto, L.; Dowless, D.; Stanghellini, V.; Cogliandro, R. F.; Lindberg, G.; Mungan, Z.; Cefle, K.; Ozcelik, T.; Palanduz, S.; Ozturk, S.; Gedikbasi, A.; Gori, A.; Pippucci, T.; Graziano, C.; Volta, U.; Caio, G.; Barbara, G.; D'Amato, M.; Seri, M.; Katsanis, N.; Romeo, G.; De Giorgio, R. (W.B. Saunders, 2015)
      Background Aims Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut obstruction. We searched for genetic variants ...
    • Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy 

      Kolb, L. E.; Arlier, Z.; Yalcinkaya, C.; Ozturk, A. K.; Moliterno, J. A.; Erturk, O.; Bayrakli, F.; Korkmaz, B.; DiLuna, M. L.; Yasuno, K.; Bilguvar, K.; Ozcelik, T.; Tuysuz, B.; State, M. W.; Gunel, M. (Springer, 2010)
      Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes ...
    • Remembering İhsan Doğramacı 

      Özsoylu, S.; Erdoğan, P. L. (International Children's Center (ICC), 2011)
    • The resource curse and child mortality, 1961–2011 

      Wigley, S. (Elsevier Ltd, 2017)
      There is now an extensive literature on the adverse effect of petroleum wealth on the political, economic and social well-being of a country. In this study we examine whether the so-called resource curse extends to the ...
    • Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy 

      Topçu, M.; Akyerli, C.; Sayi, A.; Törüner, G. A.; Koçoǧlu, S. R.; Cimbiş, M.; Özçelik, T. (Nature Publishing, 2002)
      Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal ...
    • Structural brain alterations of Down’s syndrome in early childhood evaluation by DTI and volumetric analyses 

      Gunbey, H. P.; Bilgici, M. C.; Aslan, K.; Has, A. C.; Ogur, M. G.; Alhan, A.; Incesu, L. (Springer Verlag, 2017)
      Objectives: To provide an initial assessment of white matter (WM) integrity with diffusion tensor imaging (DTI) and the accompanying volumetric changes in WM and grey matter (GM) through volumetric analyses of young children ...