Neale K - Search Results

1

Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

Gayther SA, Wells D, SenGupta SB, Chapman P, Neale K, Tsioupra K, Delhanty JD. Gayther SA, et al. Among authors: neale k. Hum Mol Genet. 1994 Jan;3(1):53-6. doi: 10.1093/hmg/3.1.53. Hum Mol Genet. 1994. PMID: 8162051

2

Familial polyposis coli.

Aldred MA, Rees M, Tsioupra K, Leigh SE, Neale KF, Delhanty JD. Aldred MA, et al. Among authors: neale kf. Lancet. 1988 Sep 3;2(8610):565. doi: 10.1016/s0140-6736(88)92679-7. Lancet. 1988. PMID: 2900939 No abstract available.

3

Comparison of morbidity and function after colectomy with ileorectal anastomosis or restorative proctocolectomy for familial adenomatous polyposis.

Madden MV, Neale KF, Nicholls RJ, Landgrebe JC, Chapman PD, Bussey HJ, Thomson JP. Madden MV, et al. Among authors: neale kf. Br J Surg. 1991 Jul;78(7):789-92. doi: 10.1002/bjs.1800780708. Br J Surg. 1991. PMID: 1651799

4

Variants at the secretory phospholipase A2 (PLA2G2A) locus: analysis of associations with familial adenomatous polyposis and sporadic colorectal tumours.

Tomlinson IP, Beck NE, Neale K, Bodmer WF. Tomlinson IP, et al. Among authors: neale k. Ann Hum Genet. 1996 Sep;60(5):369-76. doi: 10.1111/j.1469-1809.1996.tb00434.x. Ann Hum Genet. 1996. PMID: 8912789

5

A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36.

Tomlinson IP, Neale K, Talbot IC, Spigelman AD, Williams CB, Phillips RK, Bodmer WF. Tomlinson IP, et al. Among authors: neale k. J Med Genet. 1996 Apr;33(4):268-73. doi: 10.1136/jmg.33.4.268. J Med Genet. 1996. PMID: 8730279 Free PMC article.

6

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. Among authors: neale k. Hum Mol Genet. 1998 Nov;7(12):1907-12. doi: 10.1093/hmg/7.12.1907. Hum Mol Genet. 1998. PMID: 9811934

7

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

Lamlum H, Ilyas M, Rowan A, Clark S, Johnson V, Bell J, Frayling I, Efstathiou J, Pack K, Payne S, Roylance R, Gorman P, Sheer D, Neale K, Phillips R, Talbot I, Bodmer W, Tomlinson I. Lamlum H, et al. Among authors: neale k. Nat Med. 1999 Sep;5(9):1071-5. doi: 10.1038/12511. Nat Med. 1999. PMID: 10470088

8

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.

Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJ, Neale K, Phillips RK, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IP, Heinimann K. Sieber OM, et al. Among authors: neale k. Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):2954-8. doi: 10.1073/pnas.042699199. Epub 2002 Feb 26. Proc Natl Acad Sci U S A. 2002. PMID: 11867715 Free PMC article.

9

Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes.

Crabtree MD, Tomlinson IP, Hodgson SV, Neale K, Phillips RK, Houlston RS. Crabtree MD, et al. Among authors: neale k. Gut. 2002 Sep;51(3):420-3. doi: 10.1136/gut.51.3.420. Gut. 2002. PMID: 12171967 Free PMC article.

10

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

Sieber OM, Segditsas S, Knudsen AL, Zhang J, Luz J, Rowan AJ, Spain SL, Thirlwell C, Howarth KM, Jaeger EE, Robinson J, Volikos E, Silver A, Kelly G, Aretz S, Frayling I, Hutter P, Dunlop M, Guenther T, Neale K, Phillips R, Heinimann K, Tomlinson IP. Sieber OM, et al. Among authors: neale k. Gut. 2006 Oct;55(10):1440-8. doi: 10.1136/gut.2005.087106. Epub 2006 Feb 4. Gut. 2006. PMID: 16461775 Free PMC article.

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