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Browsing M.S. Theses by Subject "Linkage (Genetics)"

Browsing M.S. Theses by Subject "Linkage (Genetics)"

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  • 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 ...
  • Evaluation of exome sequencing data & mutation screening in GDAP1, GJB1, MPZ, NDRG1 and PMP22 genes in Turkish CMT patients 
    Sıvacı, Merve. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    Charcot-Marie-Tooth (CMT) disease which is an inherited peripheral neuropathy is an excellent candidate to be analyzed by exome sequencing because of its locus heterogeneity and low prevalence. Protein-coding regions, ‘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 ...
  • 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 ...
  • Mutation, exome sequencing and linkage analyses in Turkish CMT families 
    Erdoğan, Alperen. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2012., 2012.)
    Charcot-Marie-Tooth disease (CMT) also known as hereditary motor and sensory neuropathy (HMSN) is the most frequent inherited neuropathy. The patients with CMT generally have distal muscle weakness and atrophy in the ...

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