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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
The gene RPGR was previously identified in the RP3 region of Xp21.1 and shown to be mutated in 10–20% of patients with the progressive retinal degeneration X-linked retinitis pigmentosa (XLRP). TheExpand
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Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients.
OBJECTIVE To define non-bacterial osteitis (NBO) as a clinical entity possibly associated with autoimmune manifestations. Patients with sterile osteitis were analysed to develop diagnostic criteria.Expand
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial riskExpand
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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)
X-linked retinitis pigmentosa (xIRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the population. The most common form of xIRR RP3, has been localised to theExpand
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Gene-panel sequencing and the prediction of breast-cancer risk.
An international group of cancer geneticists review the level of evidence for the association of gene variants with the risk of breast cancer. It is difficult to draw firm conclusions from the dataExpand
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Association analysis identifies 65 new breast cancer risk loci
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breastExpand
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Breast cancer susceptibility: current knowledge and implications for genetic counselling
Breast cancer is the most common malignancy in women in the Western world. Except for the high breast cancer risk in BRCA1 and BRCA2 mutation carriers as well as the risk for breast cancer in certainExpand
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Evaluation of SNPs in miR‐146a, miR196a2 and miR‐499 as low‐penetrance alleles in German and Italian familial breast cancer cases
Recently, the SNPs rs11614913 in hsa‐mir‐196a2 and rs3746444 in hsa‐mir‐499 were reported to be associated with increased breast cancer risk, and the SNP rs2910164 in hsa‐mir‐146a was shown to haveExpand
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Genome-wide association studies identify four ER negative–specific breast cancer risk loci
Estrogen receptor (ER)-negative tumors represent 20–30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior ofExpand
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Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci wereExpand
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