Found 27 datasets matching "genetic-mutations".
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Background Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of...
Search relevance: 116.42 | Views last month: 1 -
DNA amplification and hybridization are successively carried out in a reaction system containing primers for the DNA amplification and hybridization probes, followed by detecting the hybrid in the...
Search relevance: 101.68 | Views last month: 0 -
Hypertrophic cardiomyopathy (HCM) is a dominant genetic disorder of the myocardium associated with dysfunctional contractile proteins. The major risk of HCM is sudden cardiac death, which may...
Search relevance: 69.92 | Views last month: 1 -
Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-pulmonary disease, exocrine pancreatic insufficiency, and male infertility. Insights into...
Search relevance: 68.62 | Views last month: 1 -
Germline mutations in the tumor suppressorPTENpredispose human beings to breast cancer, and genetic and epigenetic alterations ofPTENare also detected in sporadic human breast cancer....
Search relevance: 67.01 | Views last month: 0 -
Database of Short Genetic Variations (dbSNP) contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency,...
Search relevance: 65.64 | Views last month: 0 -
Background To learn about the molecular etiology of strabismus, we are studying the genetic basis of 'congenital fibrosis of the extraocular muscles' (CFEOM). These syndromes are...
Search relevance: 65.01 | Views last month: 0 -
Background Multiple endocrine neoplasia type 2 is an autosomal dominant disorder. MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism; MEN 2B...
Search relevance: 64.76 | Views last month: 0 -
Background We have constructed Bayesian prior-based, amino-acid sequence profiles for the complete yeast mitochondrial proteome and used them to develop methods for identifying and...
Search relevance: 63.92 | Views last month: 0 -
Background Genomic instability has been reported at microsatellite tracts in few coding sequences. We have shown that the Bloom syndrome BLM gene may be a target of...
Search relevance: 62.12 | Views last month: 1 -
The present invention provides a method of detecting non-apoptotic DNA in clinical samples. In particular there is provided a novel screening methodology for the detection of colorectal carcinoma....
Search relevance: 59.31 | Views last month: 0 -
Background The genetic code is known to be efficient in limiting the effect of mistranslation errors. A misread codon often codes for the same amino acid or one with similar biochemical...
Search relevance: 57.53 | Views last month: 0 -
Cartilage serves multiple functions in the developing embryo and in postnatal life. Genetic mutations affecting cartilage development are relatively common and lead to skeletal malformations,...
Search relevance: 56.99 | Views last month: 1 -
Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre
Background Multinodular goitre (MNG) is a common disorder characterised by an enlargement of the thyroid, occurring as a compensatory response to hormonogenesis impairment. The incidence...
Search relevance: 56.69 | Views last month: 0 -
Background Little is known about genetic factors affecting intraocular pressure (IOP) in mice and other mammals. The purpose of this study was to determine the IOPs of genetically...
Search relevance: 56.44 | Views last month: 0 -
The Arab countries encompass a wide region stretching from the Persian Gulf to the Atlantic Ocean. The Arab population is quite heterogeneous and has experienced various invasions and migrations...
Search relevance: 54.38 | Views last month: 0 -
Background The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of...
Search relevance: 51.38 | Views last month: 3 -
Listeria monocytogenes contamination of fresh-cut produce poses a threat to consumers due to its high mortality rate. Because it is widespread in the environment, as well as able to grow and...
Search relevance: 50.86 | Views last month: 0 -
Background Breast cancer is the most common female malignancy and a major cause of death in middle-aged women. So far, germline mutations in the BRCA1 and BRCA2 genes in patients with...
Search relevance: 50.20 | Views last month: 2 -
Background Genetic screens in Drosophila have provided a wealth of information about a variety of cellular and developmental processes. It is now possible to screen for mutant phenotypes...
Search relevance: 48.43 | Views last month: 0
