Konu "gene mutation" için Fakülteler listeleme
Toplam kayıt 5, listelenen: 1-5
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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
(Nature Publishing Group, 2016)Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused ... -
Histopathological and molecular findings in 98 cases of endometrial carcinoma: MMR, p53 and next generation sequencing
(Elsevier GmbH, 2023)Gynecological malignancies arise from hereditary and somatic mutations, transcriptional aberrations, and genomic alterations influenced by epigenetic factors. This study aims to identify the mutations and their frequency ... -
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 ... -
Phylogenetic relationships of Turkish indigenous donkey populations determined by mitochondrial DNA D-loop region
(MDPI AG, 2020)In this study, to analyze the mtDNA D-loop region and the origin of the maternal lineages of 16 different donkey populations, and to assess the domestication of Turkish indigenous donkeys in seven geographical regions, we ...