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Browsing Moleküler Biyoloji ve Genetik by Author "Tolun, Aslı."

Browsing Moleküler Biyoloji ve Genetik by Author "Tolun, Aslı."

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  • A study for the detection of known and novel mutations in the cystic fibrosis transmembrane conductance regulator gene 
    Kılınç, Okyay. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1996., 1996.)
    Cystic fibrosis (CF) is one of the most common and severe autosomal recessive genetic disorders worldwide. It results from mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). ...
  • Analysis of Turkish cystic fibrosis chromosomes 
    Akarsubaşı, Alper Tunga. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1995., 1995.)
    Cystic fibrosis (CF results from mutations in the gene encoding the cystic fibrosis transmembrane regulator (CFTR), a protein that regulates chloride ion transport in exocrine gladns. Since the cloning of the gene, more ...
  • Disease gene discovery by linkage mapping and exome analysis 
    Bölükbaşı, Esra Yıldız. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2018., 2018.)
    Disease gene identification is an important area in genetics. Consanguineous marriages are very common in some populations and lead to emergence of rare diseases. To uncover the functions of our genes and the molecular ...
  • Disease gene identification via linkage analysis and exome sequencing 
    Güven, Ayşe. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2012., 2012.)
    Understanding the genetic basis of hereditary diseases elucidates the molecular mechanisms underlying disease manifestations and uncovers valuable information about gene function. Consanguineous families are very useful ...
  • Disease gene search via linkage mapping and exome sequencing 
    Köroğlu Altok, Çiğdem. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2014., 2014.)
    Identification of disease genes has a key importance in understanding the molecular mechanisms of disease pathogenesis as well as in expanding our knowledge on gene function. Linkage mapping is a powerful method to identify ...
  • From genome scan to disease gene identification 
    Uğur, Sibel Aylin. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2008., 2008.)
    In the framework of this study, genome wide linkage scans of the following five inherited disorders were evaluated with parametric programs and suggestive loci were subsequently investigated with fine-mapping studies and ...
  • Gene hunt in four inherited diseases 
    Çetinkaya, Murat. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2010., 2010.)
    Genetic linkage analysis is applied to identify loci that harbor gene or genes associated with a disease. It is possible to map disease loci by observing alleles the segregation of microsatellite or SNP markers with the ...
  • Gene localization studies in two neurological disorders 
    Duru, Nadire. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2006., 2006.)
    Autozygosity mapping is a frequently used powerful method for discovering loci for autosomal recessive diseases resulting from consanguineous marriages. Gene localization is an initial step for the identification of genes ...
  • Genetic analyses in Seckel syndrome and azoospermia 
    Korur, Serdar. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2004., 2004.)
    The autosomal recessive genetic disorders Seckel syndrome and azoospermia were studied. In Seckel syndrome, the two known loci were tested for linkage in 15 Seckel families. In addition, four ATR interacting and fifteen ...
  • Genetic analysis in three inherited disorders 
    Bozoğlu, Tarık. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2008., 2008.)
    Genes responsible for inherited disorders can be localized on the genome by genetic linkage analysis. Mapping of a disease locus is accomplished by genotyping the family members with polymorphic markers in order to identify ...
  • Identification of the gene responsible for pulmonary alveolar microlithiasis and possibly associated with testicular microlithiasis 
    Corut, Ayşe. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2006., 2006.)
    In this study two inherited disorders, namely pulmonary alveolar microlithiasis (PAM) and testicular microlithiasis (TM), were studied. PAM is a rare autosomal disease characterized by the deposition of calcium phosphate ...
  • Linkage analysis and candidate gene approach in three disorders 
    Yıldırım, Yeşerin. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2010., 2010.)
    Genetically inherited diseases are powerful resources for defining new gene functions. Genetic linkage analysis is the tool used for identifying the locus/loci harboring the gene(s) responsible for a particular disease. ...
  • Linkage and exome sequence analyses to identify disease genes 
    Ayhan, Özgecan. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2014., 2014.)
    Identification of the genetic basis of a hereditary disease provides important information about the molecular mechanism of the disease and the function of the gene and could contribute to the development of therapeutic ...
  • Locus and gene search in three disorders 
    Hazan, Renin. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2009., 2009.)
    Identification of genetic defects associated with hereditary diseases is important in understanding cellular mechanisms and molecular etiology of diseases, developing diagnostic tests and novel therapeutic techniques. In ...

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