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- 1From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground In a recent report of large-scale association analysis, a type 2 diabetes susceptibility locus near HNF1A was identified in predominantly European descent populations. A population-specific G319S...
- 2From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we...
- 3From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Genome-wide association studies (GWAS) have identified new candidate genes for the occurrence of acute coronary syndrome (ACS), but possible effects of such genes on survival following ACS have yet to be...
- 4From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Germ-line mutations in the BRCA1 and BRCA2 genes are major contributors to hereditary breast/ovarian cancer. Large rearrangements are less frequent in the BRCA2 gene than in BRCA1. We report, here, the...
- 5From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Variants of mitochondrial DNA (mtDNA) have been evaluated for their association with hearing loss. Although ethnic background affects the spectrum of mtDNA variants, systematic mutational analysis of mtDNA...
- 6From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground The use of dried blood spots (DBS) samples in genomic workup has been limited by the relative low amounts of genomic DNA (gDNA) they contain. It remains to be proven that whole genome amplified DNA...
- 7From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Bardet-Biedl syndrome (BBS) is a heterogeneous human disorder inherited in an autosomal recessive pattern, and characterized by the primary findings of obesity, polydactyly, hypogonadism, and learning and...
- 8From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare...
- 9From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground SLC11A1 has pleiotropic effects on macrophage function and remains a strong candidate for infectious disease susceptibility. 5' and/or 3' polymorphisms have been associated with tuberculosis, leprosy, and...
- 10From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground There has been no systematic evaluation of the association between genetic variants of type 2 receptor for TNF[alpha] (TNFR2) and type 2 diabetes, despite strong biological evidence for the role of this...
- 11From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground The PHArmacogenetic study of Statins in the Elderly at risk (PHASE) is a genome wide association study in the PROspective Study of Pravastatin in the Elderly at risk for vascular disease (PROSPER) that...
- 12From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and...
- 13From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Recent investigations demonstrated many genetic contributions to the development of human age-related hearing impairment (ARHI), however, reports of factors associated with a reduction in the ARHI risk are...
- 14From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Although SLC22A12 258X allele was found among those with hypouricemia, it was unknown that serum uric acid distribution among those with SLC22A12 258X allele. This study examined serum uric acid (SUA)...
- 15From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Primary hyperparathyroidism (PHPT) affects mainly cortical bone. It is thought that parathyroid hormone (PTH) indirectly regulates the activity of osteoclasts by means of the osteoprotegerin/ligand of the...
- 16From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Differences in the genetic architecture of inflammatory bowel disease between different European countries and ethnicities have previously been reported. In the present study, we wanted to assess the role...
- 17From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder predominantly observed in females that leads to intellectual disability. Mutations and gross rearrangements in MECP2 account for a...
- 18From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Elevated triglyceride levels are a risk factor for cardiovascular disease. Angiopoietin-like protein 4 (Angptl4) is a metabolic factor that raises plasma triglyceride levels by inhibiting lipoprotein...
- 19From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Three IL-10 gene promoter single nucleotide polymorphisms -1082G > A, -819C > T and -592C > A and the haplotypes they define in Caucasians, GCC, ACC, ATA, associated with different IL-10 production rates,...
- 20From: BMC Medical Genetics. (Vol. 12) Peer-ReviewedBackground Preeclampsia affects 3-8% of pregnancies and is a major cause of maternal and perinatal morbidity and mortality worldwide. This complex disorder is characterized by alterations in the immune and vascular...