Sampson JR - Search Results

1

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A. Cheadle JP, et al. Among authors: sampson jr. Hum Mol Genet. 2000 Apr 12;9(7):1119-29. doi: 10.1093/hmg/9.7.1119. Hum Mol Genet. 2000. PMID: 10767337

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

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

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

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.

6

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

Lindsay S, Ireland M, O'Brien O, Clayton-Smith J, Hurst JA, Mann J, Cole T, Sampson J, Slaney S, Schlessinger D, Burn J, Pilia G. Lindsay S, et al. J Med Genet. 1997 Jun;34(6):480-3. doi: 10.1136/jmg.34.6.480. J Med Genet. 1997. PMID: 9192268 Free PMC article.

7

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

8

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

9

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

10

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

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