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Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM. Schmidt LS, et al. Among authors: peterson j. Am J Hum Genet. 2005 Jun;76(6):1023-33. doi: 10.1086/430842. Epub 2005 Apr 25. Am J Hum Genet. 2005. PMID: 15852235 Free PMC article.
A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.
Farley MN, Schmidt LS, Mester JL, Pena-Llopis S, Pavia-Jimenez A, Christie A, Vocke CD, Ricketts CJ, Peterson J, Middelton L, Kinch L, Grishin N, Merino MJ, Metwalli AR, Xing C, Xie XJ, Dahia PLM, Eng C, Linehan WM, Brugarolas J. Farley MN, et al. Among authors: peterson j. Mol Cancer Res. 2013 Sep;11(9):1061-1071. doi: 10.1158/1541-7786.MCR-13-0111. Epub 2013 May 24. Mol Cancer Res. 2013. PMID: 23709298 Free PMC article.
3,837 results