Sepp T - Search Results

1

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. van Slegtenhorst M, et al. Among authors: sepp t. Science. 1997 Aug 8;277(5327):805-8. doi: 10.1126/science.277.5327.805. Science. 1997. PMID: 9242607

2

Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation.

Green AJ, Sepp T, Yates JR. Green AJ, et al. Among authors: sepp t. Hum Genet. 1996 Feb;97(2):240-3. doi: 10.1007/BF02265273. Hum Genet. 1996. PMID: 8566961

3

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

Ali JB, Sepp T, Ward S, Green AJ, Yates JR. Ali JB, et al. Among authors: sepp t. J Med Genet. 1998 Dec;35(12):969-72. doi: 10.1136/jmg.35.12.969. J Med Genet. 1998. PMID: 9863590 Free PMC article.

4

Loss of heterozygosity in tuberous sclerosis hamartomas.

Sepp T, Yates JR, Green AJ. Sepp T, et al. J Med Genet. 1996 Nov;33(11):962-4. doi: 10.1136/jmg.33.11.962. J Med Genet. 1996. PMID: 8950679 Free PMC article.

5

An EcoRV polymorphism in exon 40 of the tuberous sclerosis 2 (TSC2) gene.

van Bakel I, Sepp T, Yates JR, Green AJ. van Bakel I, et al. Among authors: sepp t. Mol Cell Probes. 1997 Feb;11(1):75-6. doi: 10.1006/mcpr.1996.0080. Mol Cell Probes. 1997. PMID: 9076719 No abstract available.

6

Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

van Bakel I, Sepp T, Ward S, Yates JR, Green AJ. van Bakel I, et al. Among authors: sepp t. Hum Mol Genet. 1997 Sep;6(9):1409-14. doi: 10.1093/hmg/6.9.1409. Hum Mol Genet. 1997. PMID: 9285776

7

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.

Yates JR, van Bakel I, Sepp T, Payne SJ, Webb DW, Nevin NC, Green AJ. Yates JR, et al. Among authors: sepp t. Hum Mol Genet. 1997 Dec;6(13):2265-9. doi: 10.1093/hmg/6.13.2265. Hum Mol Genet. 1997. PMID: 9361032

8

Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers.

Sepp T, Khan JC, Thurlby DA, Shahid H, Clayton DG, Moore AT, Bird AC, Yates JR. Sepp T, et al. Invest Ophthalmol Vis Sci. 2006 Feb;47(2):536-40. doi: 10.1167/iovs.05-1143. Invest Ophthalmol Vis Sci. 2006. PMID: 16431947

9

Complement C3 variant and the risk of age-related macular degeneration.

Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, Shahid H, Clayton DG, Hayward C, Morgan J, Wright AF, Armbrecht AM, Dhillon B, Deary IJ, Redmond E, Bird AC, Moore AT; Genetic Factors in AMD Study Group. Yates JR, et al. Among authors: sepp t. N Engl J Med. 2007 Aug 9;357(6):553-61. doi: 10.1056/NEJMoa072618. Epub 2007 Jul 18. N Engl J Med. 2007. PMID: 17634448 Free article.

10

Age-related macular degeneration: the importance of family history as a risk factor.

Shahid H, Khan JC, Cipriani V, Sepp T, Matharu BK, Bunce C, Harding SP, Clayton DG, Moore AT, Yates JR; Genetic Factors in AMD Study Group. Shahid H, et al. Among authors: sepp t. Br J Ophthalmol. 2012 Mar;96(3):427-31. doi: 10.1136/bjophthalmol-2011-300193. Epub 2011 Aug 23. Br J Ophthalmol. 2012. PMID: 21865200

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