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Sox genes and human diseases
(Macedonian Academy Of Sciences And Arts, 2000)
SOX genes comprise a family of genes that are related to the mammalian sex determining gene SRY. They encode putative transcriptional regulators involved in the decision of cell fates during diverse developmental processes. ...
Genetic determinants of sexual development in man
(Macedonian Academy Of Sciences And Arts, 2000)
The processes of sex determination and sex differentiation involve complex interactions of molecular and morphological events leading to the development of the male or female phenotype. In humans, development of sex is ...
Homogeneity of the Hb Lepore gene in FR Yugoslavia
(Macedonian Academy Of Sciences And Arts, 2001)
Screening analysis of Yugoslav patients with suspected thalassemia syndromes in last 4 years revealed six patients who were Hb Lepore carriers. Three were compound heterozygotes for Hb Lepore and β-thalassemia, and they ...
Experimental model for studying Premature Centromere Division (PCD) in all phases of the cell cycle
(Macedonian Academy Of Sciences And Arts, 2000)
Premature Centromere Division (PCD) is an uncommon cytogenetic abnormality, which is characterized with chromosome chromatides distinctively separated before usual time. This rare disorder is correlated with various syndromes ...
Simultaneous detection of factor V Leiden and factor II G20210A variants by a multiplex PCR on whole blood
(Macedonian Academy Of Sciences And Arts, 2001)
Diagnosis of factor V G1691A (factor V Leiden) and of factor II G20210A mutations is important for patients with thrombophilia or thrombophilic conditions. A variety of methods based on polymerase chain reaction amplification ...
Frequency of the CFTR 2694T/G polymorphism and its association with CFTR-related monosymptomatic disorders
(Macedonian Academy Of Sciences And Arts, 2001)
More than 100 sequence polymorphisms have been identified in the CFTR gene thus far. Routine molecular diagnostic methods are aimed at the detection of the most common mutations in the CFTR gene; these do not usually include ...
The prothrombin factor ii g20210a mutation with pulmonary thromboembolism and a normal level of fibrin degradation products
(Macedonian Acad Sciences Arts, Skopje, 2009)
Diagnosis of pulmonary thromboembolism (PTE) usually includes clinical pretest probability assessment, testing for specific degradation products of cross-linked fibrin (D-dimer) and imaging studies. Patients with radiological ...