Sampson JR - Search Results

1

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.

Hodges AK, Li S, Maynard J, Parry L, Braverman R, Cheadle JP, DeClue JE, Sampson JR. Hodges AK, et al. Among authors: sampson jr. Hum Mol Genet. 2001 Dec 1;10(25):2899-905. doi: 10.1093/hmg/10.25.2899. Hum Mol Genet. 2001. PMID: 11741833

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

Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families.

Janssen B, Sampson J, van der Est M, Deelen W, Verhoef S, Daniels I, Hesseling A, Brook-Carter P, Nellist M, Lindhout D, et al. Janssen B, et al. Hum Genet. 1994 Oct;94(4):437-40. doi: 10.1007/BF00201608. Hum Genet. 1994. PMID: 7927344

5

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

Nellist M, Brook-Carter PT, Connor JM, Kwiatkowski DJ, Johnson P, Sampson JR. Nellist M, et al. Among authors: sampson jr. J Med Genet. 1993 Mar;30(3):224-7. doi: 10.1136/jmg.30.3.224. J Med Genet. 1993. PMID: 8386250 Free PMC article.

6

Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.

Sampson JR, Patel A, Mee AD. Sampson JR, et al. J Med Genet. 1995 Nov;32(11):848-50. doi: 10.1136/jmg.32.11.848. J Med Genet. 1995. PMID: 8592324 Free PMC article.

7

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

8

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Vrtel R, Verhoef S, Bouman K, Maheshwar MM, Nellist M, van Essen AJ, Bakker PL, Hermans CJ, Bink-Boelkens MT, van Elburg RM, Hoff M, Lindhout D, Sampson J, Halley DJ, van den Ouweland AM. Vrtel R, et al. J Med Genet. 1996 Jan;33(1):47-51. doi: 10.1136/jmg.33.1.47. J Med Genet. 1996. PMID: 8825048 Free PMC article.

9

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 Apr;5(4):562. Hum Mol Genet. 1996. PMID: 8845853 No abstract available.

10

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.

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