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Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility
(2008)
A genetic association of knee osteoarthritis (OA) and a C/T transition single nucleotide polymorphism (SNP) (rs912428) located in intron 1 of the LRCH1 gene has recently been reported in European Caucasians; however, the ...
Gilbert Syndrome as a Predisposing Factor for Cholelithiasis Risk in the Greek Adult Population
(2009)
We investigated the hypothesis that coinheritance of the common A(TA)(n)TAA promoter mutation at the UGT1A1 locus associated with Gilbert syndrome is a risk factor for gallstone formation in a homogeneous adult population, ...
Clinical, immunophenotypic, and molecular profiling of trisomy 12 in chronic lymphocytic leukemia and comparison with other karyotypic subgroups defined by cytogenetic analysis
(2006)
In a cohort of 130 unselected chronic lymphocytic leukemia (CLL) patients, 73 cases had normal karyotypes, 57 cases had abnormal karyotypes, and 22/57 cases carried more than one abnormality. Trisomy 12 (+ 12) was the most ...
Genetic Polymorphisms in the UGT1A1 gene and breast cancer risk in Greek women
(2007)
Uridine diphospho-glucuronosyltransferase 1 (UGT1A1) is involved in estradiol glucuronidation, which may play a central role in the etiology of breast cancer. A common insertion/ deletion polymorphism in the TATAA-box of ...
Association of the CALM1 core promoter polymorphism with knee osteoarthritis in patients of Greek origin
(2008)
Purpose: Osteoarthritis (OA) is characterized by focal areas of loss of articular cartilage in synovial joints, associated with varying degrees of osteophyte formation, subchondral bone change, and synovitis. The Calmodulin ...
A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5 ' UTR of GDF5 with osteoarthritis susceptibility
(2008)
We have performed a meta-analysis combining data for more than 11 000 individuals. It provides compelling evidence for a positive association between a functional single-nucleotide polymorphism (SNP) in the 5'-UTR of GDF5 ...
Association of repeat polymorphisms in the estrogen receptors alpha, beta, and androgen receptor genes with knee osteoarthritis
(2005)
Genetic factors have been shown to play an important role in the etiology of osteoarthritis (OA). To elucidate the possible role of genetic variation in the estrogen receptors alpha and beta (ER-alpha, ER-beta) and androgen ...
Meta-analysis of association between the ASPN D-repeat and osteoarthritis
(2007)
Osteoarthritis (OA) is the most common form of human arthritis. Genetic factors have been implicated in OA. It was reported that an aspartic acid (D)-repeat polymorphism in the gene encoding asporin (ASPN) was associated ...
Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3
(2012)
Ring chromosomes are rare cytogenetic findings and are mostly associated with an abnormal phenotype. We report on the prenatal diagnosis of a ring chromosome 10 in a fetus in which talipes equinovarus was incidentally found ...