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Browsing Moleküler Biyoloji ve Genetik by Author

Browsing Moleküler Biyoloji ve Genetik by Author "Çağlayan, S. Hande."

Now showing items 1-12 of 12

Absence epilepsy in Turkish patients: a novel gene at susceptibility locus 2q36 and the role of GABRG2

Çapan, Özlem Yalçın. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2009., 2009.)

Idiopathic absence epilepsies (IAE) are complex disorders mainly caused by genetic factors. Two major whole-genome linkage studies performed on many IAE samples pointed to chromosome 2q36 as a susceptibility locus for ...
Functional analysis of a splice site mutation in BABRG2 gene and its effect on GABAA receptor

Kaplan, Öyküm. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2014., 2014.)

Epilepsy is a group of diseases produced by non-controlled discharge of neurons affecting more than 2% of the population and some forms include genetic determinants. The principal group of inherited epilepsy is Genetic ...
Identification of novel genes involved in the etiology of benign neonatal / infantile epilepsy syndromes and genetic epilepsy with febrile seizures plus (GEFS+)

Usluer, Sunay. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2015., 2015.)

Epilepsy is among the most prevalent episodic neurological disorders. Genetic factors play a major role in the etiology of epilepsy. This thesis included analysis of families with distinct epilepsy phenotypes in order to ...
Molecular analyses of germ line methylation patterns and of the common intron 22 inversion mutation in the factor VIII gene

El-Maarri, Osman A. (Thesis (Ph.D.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1998., 1998.)

The factor VIII gene includes two major mutation hotspots: the intron 22 inversion and transitions at CpG dinucleotides, both of which have been examined in the context of this thesis. A non-radioactive southern blot ...
Molecular analysis of the factor IX gene in the Turkish population

Onay, Ü. Venüs. (Thesis (Ph.D.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1999., 1999.)

Hemophilia B, the third common hereditary coagulopathy, is very heterogeneous at both phenotypic and genotypic levels. This X-linked recessive disease is caused by the production of either reduced amounts or functionally ...
Molecular genetic analysis of benign epilepsy syndromes

Kayserili, Melek Aslı. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2009., 2009.)

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Benign Familial Infantile Seizures (BFIS) are some of the benign epilepsy syndromes. GEFS+ is a collection of phenotypes that show febrile seizures beyond the age ...
Molecular genetic analysis of Lafora Disease and Dravet's Syndrome

Salar, Seda. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2008., 2008.)

Lafora Disease (LD), a type of Progressive Myoclonus Epilepsy (PME) and Dravet’s Syndrome (DS), the most severe form in Generalized Epilepsy with Febrile Seizure Plus (GEFS+) spectrum, are debilitating examples of epilepsy ...
Mutation profile of hemophilia a patients with inhibitors and association of interleukin and cytokine gene polymorphisms with inhibitor development

Fidancı, İnanç Değer. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2010., 2010.)

Hemophilia A (HA) is an X linked recessive bleeding disorder characterized by qualitative and quantitative deficiency in the factor VIII (FVIII) protein, mainly caused by Factor 8 (F8) gene mutations. A severe complication ...
Mutational analysis of Factor XI and Von Willebrand Factor genes by high resolution melting analysis and direct DNA sequencing

Usluer, Sunay. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2008., 2008.)

Continuous flow of blood is essential for life and its maintenance is an important task for the body. Hemostasis is the balance between the coagulants, factors that promote blood clot formation and anti-coagulants, factors ...
Screening for point mutations in the factor VIII gene by denaturing gradient gel electrophoresis

Aksu, A. Anıl. (Thesis (M.S.)- Bogazici University. Institute for Graduate Studies in Science and Engineering, 1994., 1994.)

In genetic disorders such as hemophilia A, accurate carrier identification and prenatal diagnosis is achieved by molecular approaches namely linkage analysis and direct identification of mutations: DNA linkage analysis is ...
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 ...
The molecular landscape of ALS in Turkey: A multifaceted approach to the complex genetics of ALS

İskender, Ceren. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2018., 2018.)

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease (NDD), characterized by degeneration of both upper and lower motor neurons leading to muscle wasting. With an incidence of two and a prevalence ...

Browsing Moleküler Biyoloji ve Genetik by Author "Çağlayan, S. Hande."

Browsing Moleküler Biyoloji ve Genetik by Author "Çağlayan, S. Hande."

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