Toro JR - Search Results

1

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Herman ML, et al. Among authors: toro jr. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Hum Mutat. 2009. PMID: 19241467 Free PMC article. Review.

2

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.

Blake PW, Toro JR. Blake PW, et al. Among authors: toro jr. Hum Mutat. 2009 Jul;30(7):1025-36. doi: 10.1002/humu.21024. Hum Mutat. 2009. PMID: 19462465 Free PMC article. Review.

3

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Wei MH, Blake PW, Shevchenko J, Toro JR. Wei MH, et al. Among authors: toro jr. Hum Mutat. 2009 Sep;30(9):E880-90. doi: 10.1002/humu.21075. Hum Mutat. 2009. PMID: 19562744 Free PMC article.

4

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.

5

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.

6

The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma.

Han SS, Yeager M, Moore LE, Wei MH, Pfeiffer R, Toure O, Purdue MP, Johansson M, Scelo G, Chung CC, Gaborieau V, Zaridze D, Schwartz K, Szeszenia-Dabrowska N, Davis F, Bencko V, Colt JS, Janout V, Matveev V, Foretova L, Mates D, Navratilova M, Boffetta P, Berg CD, Grubb RL 3rd, Stevens VL, Thun MJ, Diver WR, Gapstur SM, Albanes D, Weinstein SJ, Virtamo J, Burdett L, Brisuda A, McKay JD, Fraumeni JF Jr, Chatterjee N, Rosenberg PS, Rothman N, Brennan P, Chow WH, Tucker MA, Chanock SJ, Toro JR. Han SS, et al. Among authors: toro jr. Hum Mol Genet. 2012 Mar 1;21(5):1190-200. doi: 10.1093/hmg/ddr551. Epub 2011 Nov 23. Hum Mol Genet. 2012. PMID: 22113997 Free PMC article.

7

Autoinflammatory diseases: clinical and genetic advances.

Farasat S, Aksentijevich I, Toro JR. Farasat S, et al. Among authors: toro jr. Arch Dermatol. 2008 Mar;144(3):392-402. doi: 10.1001/archderm.144.3.392. Arch Dermatol. 2008. PMID: 18347298 Review.

8

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.

Shevchenko YO, Compton JG, Toro JR, DiGiovanna JJ, Bale SJ. Shevchenko YO, et al. Among authors: toro jr. Hum Genet. 2000 May;106(5):492-9. doi: 10.1007/s004390000284. Hum Genet. 2000. PMID: 10914678

9

Identification of a novel chromosome region, 13q21.33-q22.2, for susceptibility genes in familial chronic lymphocytic leukemia.

Ng D, Toure O, Wei MH, Arthur DC, Abbasi F, Fontaine L, Marti GE, Fraumeni JF Jr, Goldin LR, Caporaso N, Toro JR. Ng D, et al. Among authors: toro jr. Blood. 2007 Feb 1;109(3):916-25. doi: 10.1182/blood-2006-03-011825. Epub 2006 Oct 17. Blood. 2007. PMID: 17047154 Free article.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

81 results

Search Page

Filters