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2.145  Articles
1 of 215 pages  |  10  records  |  more records»
BACKGROUND Retinoblastoma (RB) is an inherited disorder caused by the RB1 gene mutation in retinal cells or germline mutation. Identifying the specific mutation is crucial for prognosis, inheritance risk assessment, and treatment planning. This study aime... see more

Women who carry a pathogenic mutation in the breast cancer susceptibility genes BRCA1 or BRCA2 (BRCA) have markedly increased risks of developing breast and ovarian cancers during their lifetime. It has been estimated that their breast and ovarian cancer ... see more

EDITORIALBRCA1/2 mutations are the most common germline mutations, accounting for up to 40% of familial breast cancer (Shuen and Foulkes, 2011). BRCA1 andBRCA2 are tumor suppressor genes identified in the early 1990s(Hall et al., 1992; Leno... see more

ABSTRACTPharmacogenomics and pharmacogenetics plays an important role in understanding how genetic variants influence drug efficacy and toxicity.  In the case of cancer, both efficacy and toxicity of therapeutic agents determine the improvement of su... see more

AbstractHereditary cancer refers to cancers caused by germline mutations in cancer predisposing genes. These mutations confer a significantly increased risk of cancer, are rare, and are in the majority of cases autosomal dominantly inherited.  Since ... see more

BRCA1/BRCA2 mutations are the most common high penetrant genes associated with an increased lifetime risk for hereditary breast and ovarian cancer (HBOC). Although genetic testing is standard of care in Western developed countries, there are still variati... see more

Introduction: About 5% of endometrial cancer cases can be genetic and inherited. Lynch syndrome, also called hereditary non-polyposis colorectal cancer (HNPCC), is an autosomal dominant syndrome. Caused by a germline mutation in one of the DNA mismatch re... see more

[No abstract. Showing first paragraph of article]Although pulmonary hypertension (PH) had been recognised for centuries, it was not until the invention of cardiac catheterisation in the 1950s that enabled an accurate gene encoding bone morphogenetic ... see more

BACKGROUND Hereditary nonpolyposis colorectal cancer, or Lynch syndrome, caused by germline mutations or genetic defects in mismatch repair (MMR) genes (MLH1, MSH2, PMS2, MSH6, and epithelial cellular adhesion molecule), is an autosomal dominant condition... see more

1 of 215 pages  |  10  records  |  more records»