Sampson JR - Search Results

1

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

2

Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

Sampson JR, Janssen LA, Sandkuijl LA. Sampson JR, et al. J Med Genet. 1992 Dec;29(12):861-6. doi: 10.1136/jmg.29.12.861. J Med Genet. 1992. PMID: 1479600 Free PMC article.

3

Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.

Janssen LA, Sandkuijl LA, Sampson JR, Halley DJ. Janssen LA, et al. Among authors: sampson jr. J Med Genet. 1992 Dec;29(12):867-74. doi: 10.1136/jmg.29.12.867. J Med Genet. 1992. PMID: 1479601 Free PMC article.

4

Pitted enamel hypoplasia in tuberous sclerosis.

Sampson JR, Attwood D, al Mughery AS, Reid JS. Sampson JR, et al. Clin Genet. 1992 Jul;42(1):50-2. doi: 10.1111/j.1399-0004.1992.tb03137.x. Clin Genet. 1992. PMID: 1516228

5

Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34.

van Slegtenhorst M, Janssen B, Nellist M, Ramlakhan S, Hermans C, Hesseling A, van den Ouweland A, Kwiatkowski D, Eussen B, Sampson J, et al. van Slegtenhorst M, et al. Eur J Hum Genet. 1995;3(2):78-86. doi: 10.1159/000472280. Eur J Hum Genet. 1995. PMID: 7552145

6

Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues.

Xu L, Sterner C, Maheshwar MM, Wilson PJ, Nellist M, Short PM, Haines JL, Sampson JR, Ramesh V. Xu L, et al. Among authors: sampson jr. Genomics. 1995 Jun 10;27(3):475-80. doi: 10.1006/geno.1995.1079. Genomics. 1995. PMID: 7558029

7

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

8

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

9

Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene.

Richards FM, Crossey PA, Phipps ME, Foster K, Latif F, Evans G, Sampson J, Lerman MI, Zbar B, Affara NA, et al. Richards FM, et al. Hum Mol Genet. 1994 Apr;3(4):595-8. doi: 10.1093/hmg/3.4.595. Hum Mol Genet. 1994. PMID: 8069305

10

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.

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