Konu "Mutation" için Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed listeleme
Toplam kayıt 13, listelenen: 1-13
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9 Years Follow-up of a Patient with Pituitary Form of Resistance to Thyroid Hormones (PRTH): Comparison of Two Treatment Periods of D-Thyroxine and Triiodothyroacetic Acid (TRIAC)
(Walter De Gruyter Gmbh, 2009)Patients with pituitary resistance to thyroid hormones (PRTH) exhibit features of hyperthyroidism due to normal sensitivity to thyroid hormones in some of the peripheral tissues. There is a lack of information in the ... -
Alopecia: Association with Resistance to Thyroid Hormones
(Freund Publishing House Ltd, 2009)Resistance to thyroid hormone (RTH) syndrome is caused by thyroid hormone beta receptor (TR beta) mutations. Goiter, learning disabilities, psychological abnormalities, sinus tachycardia, hearing deficits, short stature, ... -
Association of a point mutation (m.9176T > G) of the MT-ATP6 gene with Leigh syndrome: A case report
(Biomedpress, 2020)Leigh Syndrome (LS) is an uncommon progressive neurodegenerative mitochondrial disorder. The condition is characterized by progressive mental and developmental disabilities (psychomotor regression) and commonly brings about ... -
Characterization of Bubaline Leptin Gene Polymorphism in Anatolian Buffaloes By Using PCR-RFLP Method
(Kastamonu Univ, Orman Fak, 2018)Leptin is a hormone which produces 16 kDa protein predominantly expressed in adipose tissue. Leptin gene has pleiotropic effects on several functional traits such as milk yield, carcass and meat quality, growth, feed intake ... -
Detection of Cytogenetic and Genotoxic Effects of Gamma Radiation on M-1 Generation of Three Varieties of Triticum Aestivum L.
(Pakistan Botanical Soc, 2019)The effects of (60)Cobalt (Co-60) gamma radiation on cell division and chromosomal structure in M1 generations of three varieties (NKU Lider, Bezostaja and GK Beke's) of Triticum aestivum L. genotypes were determined in ... -
Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study
(Lippincott Williams & Wilkins, 2022)Background: We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit idiopathic erythrocytosis. Methods: Sixty-four ... -
Familial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohort
(Springer Heidelberg, 2020)The aims of this study were to investigate the main clinical and laboratory features, including pregnancy and genetic analysis, of Turkish Familial Mediterranean Fever (FMF) patients and to analyze the relationships between ... -
Genetic Characterization of Clavibacter michiganensis subsp michiganensis Population in Turkey
(Amer Phytopathological Soc, 2018)The pathogenic gram-positive bacterium Clavibacter michiganensis subsp. michiganensis (Smith) Davis et al. is the most harmful bacterium to tomatoes in many countries with a cooler climate. Multilocus sequence analysis was ... -
Genetic Risk Factors in Chronic Obstructive Pulmonary Disease
(Wolters Kluwer Medknow Publications, 2012)The role of genetic factors in development of chronic obstructive pulmonary disease (COPD) is accepted in general. However, other than alpha-1 antitrypsin deficiency which alone can lead to COPD, the studies performed ... -
Genotypic characterization of meat-type lambs expressing the callipyge gene in Turkey: Carcass characteristics and retail yield
(Scientific Technical Research Council Turkey-Tubitak, 2022)This study is set out to evaluate the effects of callipyge (CLPG) gene, attributed to sheep affecting growth and meat quality, on carcass and sensory trait of most preferred meat-type lamb (Kivircik, Karacabey Merino, ... -
Investigation of alpha globin gene mutations by complementary methods in Antalya
(Yuzuncu Yil Universitesi Tip Fakultesi, 2021)Alpha (?) thalassemia is one of the hemoglobinopaties that is inherited by autosomal recessive mode. It is caused by mutations on alpha-1 and alpha-2 globin genes. Deletional type mutations of globin genes have commonly ... -
Next generation sequencing analysis of BRCA1 and BRCA2 identifies novel variations in breast cancer
(Elsevier Inc., 2020)Mutations in two major breast cancer susceptibility genes, BRCA1 and BRCA2, have been identified to be the most important predisposing factors for the development of breast cancer. Thus, BRCA1/2 testing is a well-established ... -
Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics
(Academic Press Inc., 2020)Familial Mediterranean Fever (FMF) is a hereditary fever syndrome that primarily affects Mediterranean populations. For the study, total number of 182 patients with FMF disease were enrolled and screening of a panel of ...