Archives and Documentation Center
Digital Archives

Browsing Moleküler Biyoloji ve Genetik by Subject "Genetic disorders."

Browsing Moleküler Biyoloji ve Genetik by Subject "Genetic disorders."

Sort by: Order: Results:

  • Analysis of the Cx32, MPZ and PMP22 mutations in the Turkish Charcot-Marie-Tooth patients 
    Maracı, Nazmiye Öncü. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2006., 2006.)
    Charcot-Marie-Tooth disease is the most common hereditary peripheral neuropathy with a prevalence rate of one in 2500. Although the disease is classified as demyelinating and axonal CMT based on clinical investigations, ...
  • Beta thalassemia in Turkey: |distribution, diversity, evolution and phenotype-genotype correlations 
    Tadmouri, Ghazi Omar. (Thesis (Ph.D.)- Bogazici University. Institute for Graduate Studies in Science and Engineering, 1999., 1999.)
    The present study illustrates the results of years of research on different aspects of beta-thalassemia in Turkey. Methods to detect the C-T change at position -158 upstream of the Gy-globin gene and the (AT)xTy motif 5' ...
  • Development of a drosophila CMT model via overexpression and knocking-in of GDAP1 gene 
    Akyüz, Hüseyin Kaya. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    Charcot-Marie-Tooth (CMT) disease is one of the most common inherited disorders of the nervous system. Known also as hereditary motor and sensory neuropathy, this disease is characterized by distal sensory loss, muscle ...
  • Development of a drosophila CMT4A model using imago approach 
    Yıldırım, Kerem. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. So far, approximately 50 genes and loci have been associated with CMT. Mutations in ganglioside-induced differentiation-associated protein ...
  • 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 ...
  • Expression analysis and behavioral assays in drosophila CMT models 
    Küey, Cansu. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2015., 2015.)
    Charcot–Marie–Tooth (CMT) disease is the most common inherited disorder of the peripheral nervous system. It is characterized by progressive distal sensory loss and weakness, muscle atrophy in hands and lower legs, 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 ...
  • 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 ...
  • Genetics of hereditary sensory and autonomic neuropathy (HSAN) 
    Tezel, Seden. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2020., 2020.)
    Hereditary Sensory Neuropathy (HSN), predominantly affects sensory nerves and is characterized by sensory loss in addition to muscle weakness, wasting and painless injuries. Autonomic symptoms are commonly associated with ...
  • 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. ...
  • Screening of autosomal recessive Charcot-Marie-Tooth (ARCMT2), distal hereditary motor neuropathy (dHMN) and hereditary spastic paraplegia (HSP) patients for mutations in axonal neuropathy genes 
    Şenergin, H. Başak. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2006., 2006.)
    Charcot-Marie-Tooth Disease (CMT), distal Hereditary Motor Neuropathy (HMN) and Hereditary Spastic Paraplegia (HSP) constitute the largest group of inherited diseases affecting the peripheral nervous system. In the scope ...
  • Screening of spastin, atlastin, nipa1 and reep1 genes in hereditary spastic paraplegia patients 
    Atay, Çiğdem. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2008., 2008.)
    Hereditary Spastic Paraplegia (HSP), also known as Strümpell-Lorrain Syndrome or Familial Spastic Paraplegia (FSP), is a group of inherited neurodegenerative disorders that is characterized by progressive spasticity and ...
  • The molecular dissection of ataxias in Turkey and the impact of whole exome sequencing in their precise differential diagnosis 
    Koçoğlu, Cemile. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2016., 2016.)
    Ataxias are a diverse group of genetically, clinically and mechanistically heterogeneous neurodegenerative disorders. There is significant overlap in the phenotype of different subtypes of ataxia, which can also manifest ...

Search Digital Archive


Browse

My Account