Sampson JR - Search Results

1

Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III.

Aspinwall R, Rothwell DG, Roldan-Arjona T, Anselmino C, Ward CJ, Cheadle JP, Sampson JR, Lindahl T, Harris PC, Hickson ID. Aspinwall R, et al. Among authors: sampson jr. Proc Natl Acad Sci U S A. 1997 Jan 7;94(1):109-14. doi: 10.1073/pnas.94.1.109. Proc Natl Acad Sci U S A. 1997. PMID: 8990169 Free PMC article.

2

The molecular genetics of tuberous sclerosis.

Sampson JR, Harris PC. Sampson JR, et al. Hum Mol Genet. 1994;3 Spec No:1477-80. doi: 10.1093/hmg/3.suppl_1.1477. Hum Mol Genet. 1994. PMID: 7849741

3

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.

Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR. Brook-Carter PT, et al. Among authors: sampson jr. Nat Genet. 1994 Dec;8(4):328-32. doi: 10.1038/ng1294-328. Nat Genet. 1994. PMID: 7894481

4

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.

Maheshwar MM, Sandford R, Nellist M, Cheadle JP, Sgotto B, Vaudin M, Sampson JR. Maheshwar MM, et al. Among authors: sampson jr. Hum Mol Genet. 1996 Jan;5(1):131-7. doi: 10.1093/hmg/5.1.131. Hum Mol Genet. 1996. PMID: 8789450

5

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: sampson jr. Science. 1997 Aug 8;277(5327):805-8. doi: 10.1126/science.277.5327.805. Science. 1997. PMID: 9242607

6

Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog.

Kobayashi T, Urakami S, Cheadle JP, Aspinwall R, Harris P, Sampson JR, Hino O. Kobayashi T, et al. Among authors: sampson jr. Mamm Genome. 1997 Aug;8(8):554-8. doi: 10.1007/s003359900502. Mamm Genome. 1997. PMID: 9250859

7

Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR. Maheshwar MM, et al. Among authors: sampson jr. Hum Mol Genet. 1997 Oct;6(11):1991-6. doi: 10.1093/hmg/6.11.1991. Hum Mol Genet. 1997. PMID: 9302281

8

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP. Jones AC, et al. Among authors: sampson jr. Hum Mol Genet. 1997 Nov;6(12):2155-61. doi: 10.1093/hmg/6.12.2155. Hum Mol Genet. 1997. PMID: 9328481

9

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, Roy S, Haan E, Bernstein J, Harris PC. Sampson JR, et al. Am J Hum Genet. 1997 Oct;61(4):843-51. doi: 10.1086/514888. Am J Hum Genet. 1997. PMID: 9382094 Free PMC article.

10

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. Jones AC, et al. Among authors: sampson jr. Am J Hum Genet. 1999 May;64(5):1305-15. doi: 10.1086/302381. Am J Hum Genet. 1999. PMID: 10205261 Free PMC article. Review.

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