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Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome… Expand Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) has been recently described as a unique and indolent renal neoplasm… Expand BackgroundLung cancer with EGFR mutation was shown to be a specific clinical entity. In order to better understand the biology… Expand Few genome‐wide linkage studies of osteoporosis have been conducted in the Asian population. We performed a genome‐wide scan… Expand Prostate cancer is a common and clinically heterogeneous disease with marked variability in progression. The recent… Expand Recurrent chromosomal rearrangements have not been well characterized in common carcinomas. We describe the use of a novel… Expand Biliary tract cancers carry dismal prognoses. It is commonly understood that chromosomal aberrations in cancer cells have… Expand We describe a 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput… Expand Saethre-Chotzen syndrome is a common autosomal dominant form of craniosynostosis, which results in the premature fusion of… Expand Evidence for the location of the Saethre-Chotzen acrocephalosyndactyly mutation on 7p21-22 is based on genetic linkage studies in… Expand