Sampson JR - Search Results

1

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP. Sampson JR, et al. Lancet. 2003 Jul 5;362(9377):39-41. doi: 10.1016/S0140-6736(03)13805-6. Lancet. 2003. PMID: 12853198

2

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

3

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

4

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

5

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.

6

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.

7

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.

Woodford-Richens K, Bevan S, Churchman M, Dowling B, Jones D, Norbury CG, Hodgson SV, Desai D, Neale K, Phillips RK, Young J, Leggett B, Dunlop M, Rozen P, Eng C, Markie D, Rodriguez-Bigas MA, Sheridan E, Iwama T, Eccles D, Smith GT, Kim JC, Kim KM, Sampson JR, Evans G, Tejpar S, Bodmer WF, Tomlinson IP, Houlston RS. Woodford-Richens K, et al. Among authors: sampson jr. Gut. 2000 May;46(5):656-60. doi: 10.1136/gut.46.5.656. Gut. 2000. PMID: 10764709 Free PMC article.

8

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

9

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis.

Jones AC, Sampson JR, Hoogendoorn B, Cohen D, Cheadle JP. Jones AC, et al. Among authors: sampson jr. Hum Genet. 2000 Jun;106(6):663-8. doi: 10.1007/s004390000316. Hum Genet. 2000. PMID: 10942116

10

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.

Lamlum H, Al Tassan N, Jaeger E, Frayling I, Sieber O, Reza FB, Eckert M, Rowan A, Barclay E, Atkin W, Williams C, Gilbert J, Cheadle J, Bell J, Houlston R, Bodmer W, Sampson J, Tomlinson I. Lamlum H, et al. Hum Mol Genet. 2000 Sep 22;9(15):2215-21. doi: 10.1093/oxfordjournals.hmg.a018912. Hum Mol Genet. 2000. PMID: 11001924

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