Πλοήγηση ανά Θέμα "DNA Mutational Analysis"
Αποτελέσματα 1-6 από 6
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Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
(2007)Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This is a case-control study consisting of 25 Greek patients with CP and a control population of 236 healthy Greek subjects. The whole coding area ... -
Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance?
(1999)The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ... -
Mutation profile of KRAS and BRAF genes in patients with colorectal cancer: Association with morphological and prognostic criteria
(2015)KRAS and BRAF mutations are well-recognized molecular alterations during colorectal carcinogenesis, but there is little agreement on their effect on tumor characteristics. Therefore, we aimed to evaluate the distribution ... -
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
(2014)Neurodegenerative diseases affecting the macula constitute amajor cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial lateonset ... -
Thumb duplication: molecular analysis of different clinical types
(2019)Purpose: Molecular analysis of different types of thumb duplication and identification of new suspected gene mutations. Materials and methods: In a series of patients operated for polydactyly, DNA was extracted from blood ... -
TP53 mutations and protein immunopositivity may predict for poor outcome but also for trastuzumab benefit in patients with early breast cancer treated in the adjuvant setting
(2016)Background: We investigated the impact of PIK3CA and TP53 mutations and p53 protein status on the outcome of patients who had been treated with adjuvant anthracycline-taxane chemotherapy within clinical trials in the pre- ...