Woodford-Richens K - Search Results

1

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. Zhou XP, et al. Among authors: woodford richens k. Am J Hum Genet. 2001 Oct;69(4):704-11. doi: 10.1086/323703. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11536076 Free PMC article.

2

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

Houlston R, Bevan S, Williams A, Young J, Dunlop M, Rozen P, Eng C, Markie D, Woodford-Richens K, Rodriguez-Bigas MA, Leggett B, Neale K, Phillips R, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Tomlinson I. Houlston R, et al. Hum Mol Genet. 1998 Nov;7(12):1907-12. doi: 10.1093/hmg/7.12.1907. Hum Mol Genet. 1998. PMID: 9811934

3

CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers.

Woodford-Richens KL, Halford S, Rowan A, Bevan S, Aaltonen LA, Wasan H, Bicknell D, Bodmer WF, Houlston RS, Tomlinson IP. Woodford-Richens KL, et al. Br J Cancer. 2001 May 18;84(10):1314-6. doi: 10.1054/bjoc.2001.1800. Br J Cancer. 2001. PMID: 11355940 Free PMC article.

4

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.

Woodford-Richens KL, Rowan AJ, Poulsom R, Bevan S, Salovaara R, Aaltonen LA, Houlston RS, Wright NA, Tomlinson IP. Woodford-Richens KL, et al. Am J Pathol. 2001 Oct;159(4):1293-300. doi: 10.1016/S0002-9440(10)62516-3. Am J Pathol. 2001. PMID: 11583957 Free PMC article.

5

An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.

Jaeger EE, Woodford-Richens KL, Lockett M, Rowan AJ, Sawyer EJ, Heinimann K, Rozen P, Murday VA, Whitelaw SC, Ginsberg A, Atkin WS, Lynch HT, Southey MC, Debinski H, Eng C, Bodmer WF, Talbot IC, Hodgson SV, Thomas HJ, Tomlinson IP. Jaeger EE, et al. Among authors: woodford richens kl. Am J Hum Genet. 2003 May;72(5):1261-7. doi: 10.1086/375144. Epub 2003 Apr 14. Am J Hum Genet. 2003. PMID: 12696020 Free PMC article.

6

Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome.

Bevan S, Woodford-Richens K, Rozen P, Eng C, Young J, Dunlop M, Neale K, Phillips R, Markie D, Rodriguez-Bigas M, Leggett B, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Houlston R, Tomlinson I. Bevan S, et al. Gut. 1999 Sep;45(3):406-8. doi: 10.1136/gut.45.3.406. Gut. 1999. PMID: 10446110 Free PMC article.

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. Gut. 2000 May;46(5):656-60. doi: 10.1136/gut.46.5.656. Gut. 2000. PMID: 10764709 Free PMC article.

8

Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium.

Woodford-Richens K, Williamson J, Bevan S, Young J, Leggett B, Frayling I, Thway Y, Hodgson S, Kim JC, Iwama T, Novelli M, Sheer D, Poulsom R, Wright N, Houlston R, Tomlinson I. Woodford-Richens K, et al. Cancer Res. 2000 May 1;60(9):2477-82. Cancer Res. 2000. PMID: 10811127

9

SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway.

Woodford-Richens KL, Rowan AJ, Gorman P, Halford S, Bicknell DC, Wasan HS, Roylance RR, Bodmer WF, Tomlinson IP. Woodford-Richens KL, et al. Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9719-23. doi: 10.1073/pnas.171321498. Epub 2001 Jul 31. Proc Natl Acad Sci U S A. 2001. PMID: 11481457 Free PMC article.

10

Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype.

Lipton L, Sieber OM, Thomas HJ, Hodgson SV, Tomlinson IP, Woodford-Richens K. Lipton L, et al. Among authors: woodford richens k. J Med Genet. 2003 Apr;40(4):e35. doi: 10.1136/jmg.40.4.e35. J Med Genet. 2003. PMID: 12676908 Free PMC article. No abstract available.

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