Toro JR - Search Results

1

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. 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.

2

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. 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.

3

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: toro jr. 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.

4

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. 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.

5

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. J Urol. 2005 May;173(5):1482-6. doi: 10.1097/01.ju.0000154629.45832.30. J Urol. 2005. PMID: 15821464

6

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: toro jr. 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.

7

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

Pithukpakorn M, Wei MH, Toure O, Steinbach PJ, Glenn GM, Zbar B, Linehan WM, Toro JR. Pithukpakorn M, et al. Among authors: toro jr. J Med Genet. 2006 Sep;43(9):755-62. doi: 10.1136/jmg.2006.041087. Epub 2006 Apr 5. J Med Genet. 2006. PMID: 16597677 Free PMC article.

8

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Farasat S, et al. Among authors: toro jr. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23. J Med Genet. 2009. PMID: 18948357 Free PMC article.

9

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS. Nickerson ML, et al. Among authors: toro jr. Cancer Cell. 2002 Aug;2(2):157-64. doi: 10.1016/s1535-6108(02)00104-6. Cancer Cell. 2002. PMID: 12204536 Free article.

10

Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.

Stewart L, Glenn GM, Stratton P, Goldstein AM, Merino MJ, Tucker MA, Linehan WM, Toro JR. Stewart L, et al. Among authors: toro jr. Arch Dermatol. 2008 Dec;144(12):1584-92. doi: 10.1001/archdermatol.2008.517. Arch Dermatol. 2008. PMID: 19075141 Free PMC article.

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