Tuohy T - Search Results

1

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.

Dent KM, Dunn DM, von Niederhausern AC, Aoyagi AT, Kerr L, Bromberg MB, Hart KJ, Tuohy T, White S, den Dunnen JT, Weiss RB, Flanigan KM. Dent KM, et al. Among authors: tuohy t. Am J Med Genet A. 2005 Apr 30;134(3):295-8. doi: 10.1002/ajmg.a.30617. Am J Med Genet A. 2005. PMID: 15723292

2

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 Free PMC article.

3

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.

Gurvich OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, Weiss RB, Wilton SD, Flanigan KM. Gurvich OL, et al. Among authors: tuohy tm. Ann Neurol. 2008 Jan;63(1):81-9. doi: 10.1002/ana.21290. Ann Neurol. 2008. PMID: 18059005

4

Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer.

Neklason DW, Tuohy TM, Stevens J, Otterud B, Baird L, Kerber RA, Samowitz WS, Kuwada SK, Leppert MF, Burt RW. Neklason DW, et al. J Med Genet. 2010 Oct;47(10):692-9. doi: 10.1136/jmg.2009.076091. Epub 2010 Jun 3. J Med Genet. 2010. PMID: 20522424 Free PMC article.

5

Large intron 14 rearrangement in APC results in splice defect and attenuated FAP.

Tuohy TM, Done MW, Lewandowski MS, Shires PM, Saraiya DS, Huang SC, Neklason DW, Burt RW. Tuohy TM, et al. Hum Genet. 2010 Mar;127(3):359-69. doi: 10.1007/s00439-009-0776-9. Epub 2009 Dec 22. Hum Genet. 2010. PMID: 20033212 Free PMC article.

6

APC promoter 1B deletion in seven American families with familial adenomatous polyposis.

Snow AK, Tuohy TM, Sargent NR, Smith LJ, Burt RW, Neklason DW. Snow AK, et al. Among authors: tuohy tm. Clin Genet. 2015 Oct;88(4):360-5. doi: 10.1111/cge.12503. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25243319 Free PMC article.

7

Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.

Tuohy T, Burt RW. Tuohy T, et al. Hum Genet. 2010 Apr;127(4):477. Hum Genet. 2010. PMID: 21488240 No abstract available.

8

Shared genomic segment analysis: the power to find rare disease variants.

Knight S, Abo RP, Abel HJ, Neklason DW, Tuohy TM, Burt RW, Thomas A, Camp NJ. Knight S, et al. Ann Hum Genet. 2012 Nov;76(6):500-9. doi: 10.1111/j.1469-1809.2012.00728.x. Epub 2012 Sep 19. Ann Hum Genet. 2012. PMID: 22989048 Free PMC article.

9

Somatic mosaicism: a cause for unexplained cases of FAP?

Tuohy TM, Burt RW. Tuohy TM, et al. Gut. 2008 Jan;57(1):10-2. doi: 10.1136/gut.2007.133108. Gut. 2008. PMID: 18094199 No abstract available.

10

Gonadal mosaicism and familial adenomatous polyposis.

Schwab AL, Tuohy TM, Condie M, Neklason DW, Burt RW. Schwab AL, et al. Fam Cancer. 2008;7(2):173-7. doi: 10.1007/s10689-007-9169-1. Epub 2007 Nov 18. Fam Cancer. 2008. PMID: 18026870

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