K. Woodford-Richens

发表

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

W. F. Bodmer, W. Bodmer, A. Rowan, 2001, Proceedings of the National Academy of Sciences of the United States of America.

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

W. Bodmer, R. Houlston, B. Leggett, 1998, Human molecular genetics.

Screening SMAD1,SMAD2, SMAD3, andSMAD5 for germline mutations in juvenile polyposis syndrome

W. Bodmer, R. Houlston, B. Leggett, 1999, Gut.

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

W. Bodmer, R. Houlston, B. Leggett, 2000, Gut.

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

L. Aaltonen, W. Bodmer, R. Houlston, 2001, British Journal of Cancer.

Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome

I. Tomlinson, C. Lawrence, A. Lampe, 2003, Journal of medical genetics.

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

W F Bodmer, P Rozen, L. Aaltonen, 2001, American journal of human genetics.

Germline mutations in the TGF-β and Wnt signalling pathways are a rare cause of the “multiple” adenoma phenotype

L. Lipton, O. Sieber, I. Tomlinson, 2003, Journal of medical genetics.

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

R. Houlston, B. Leggett, R. Poulsom, 2000, Cancer research.

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

L. Aaltonen, R. Houlston, A. Rowan, 2001, The American journal of pathology.

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

M. Southey, W. Bodmer, A. Rowan, 2003, American journal of human genetics.

A family with juvenile polyposis linked to the BMPR1A locus: Cryptic mutation or closely linked gene?

L. Lipton, I. Tomlinson, L. Carvajal-Carmona, 2007, Journal of Gastroenterology and Hepatology.