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BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM. Toro JR, et al. Among authors: glenn gm. J Med Genet. 2008 Jun;45(6):321-31. doi: 10.1136/jmg.2007.054304. Epub 2008 Jan 30. J Med Genet. 2008. PMID: 18234728 Free PMC article. Review.
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B. Toro JR, et al. Among authors: glenn gm. Am J Hum Genet. 2003 Jul;73(1):95-106. doi: 10.1086/376435. Epub 2003 May 22. Am J Hum Genet. 2003. PMID: 12772087 Free PMC article.
Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome.
Pavlovich CP, Grubb RL 3rd, Hurley K, Glenn GM, Toro J, Schmidt LS, Torres-Cabala C, Merino MJ, Zbar B, Choyke P, Walther MM, Linehan WM. Pavlovich CP, et al. Among authors: glenn gm. J Urol. 2005 May;173(5):1482-6. doi: 10.1097/01.ju.0000154629.45832.30. J Urol. 2005. PMID: 15821464
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: glenn gm. 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.
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.
Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM. Toro JR, et al. Among authors: glenn gm. Am J Respir Crit Care Med. 2007 May 15;175(10):1044-53. doi: 10.1164/rccm.200610-1483OC. Epub 2007 Feb 22. Am J Respir Crit Care Med. 2007. PMID: 17322109 Free PMC article.
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR. Wei MH, et al. Among authors: glenn gm. J Med Genet. 2006 Jan;43(1):18-27. doi: 10.1136/jmg.2005.033506. Epub 2005 Jun 3. J Med Genet. 2006. PMID: 15937070 Free PMC article.
229 results