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Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.
Olschwang S, Markie D, Seal S, Neale K, Phillips R, Cottrell S, Ellis I, Hodgson S, Zauber P, Spigelman A, Iwama T, Loff S, McKeown C, Marchese C, Sampson J, Davies S, Talbot I, Wyke J, Thomas G, Bodmer W, Hemminki A, Avizienyte E, de la Chapelle A, Aaltonen L, Tomlinson I, et al. Olschwang S, et al. Among authors: hemminki a. J Med Genet. 1998 Jan;35(1):42-4. doi: 10.1136/jmg.35.1.42. J Med Genet. 1998. PMID: 9475093 Free PMC article.
Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.
Ylikorkala A, Avizienyte E, Tomlinson IP, Tiainen M, Roth S, Loukola A, Hemminki A, Johansson M, Sistonen P, Markie D, Neale K, Phillips R, Zauber P, Twama T, Sampson J, Järvinen H, Mäkelä TP, Aaltonen LA. Ylikorkala A, et al. Among authors: hemminki a. Hum Mol Genet. 1999 Jan;8(1):45-51. doi: 10.1093/hmg/8.1.45. Hum Mol Genet. 1999. PMID: 9887330
SMAD genes in juvenile polyposis.
Roth S, Sistonen P, Salovaara R, Hemminki A, Loukola A, Johansson M, Avizienyte E, Cleary KA, Lynch P, Amos CI, Kristo P, Mecklin JP, Kellokumpu I, Järvinen H, Aaltonen LA. Roth S, et al. Among authors: hemminki a. Genes Chromosomes Cancer. 1999 Sep;26(1):54-61. doi: 10.1002/(sici)1098-2264(199909)26:1<54::aid-gcc8>;2-d. Genes Chromosomes Cancer. 1999. PMID: 10441006
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA. Hemminki A, et al. Nature. 1998 Jan 8;391(6663):184-7. doi: 10.1038/34432. Nature. 1998. PMID: 9428765
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.
Marsh DJ, Roth S, Lunetta KL, Hemminki A, Dahia PL, Sistonen P, Zheng Z, Caron S, van Orsouw NJ, Bodmer WF, Cottrell SE, Dunlop MG, Eccles D, Hodgson SV, Järvinen H, Kellokumpu I, Markie D, Neale K, Phillips R, Rozen P, Syngal S, Vijg J, Tomlinson IP, Aaltonen LA, Eng C. Marsh DJ, et al. Among authors: hemminki a. Cancer Res. 1997 Nov 15;57(22):5017-21. Cancer Res. 1997. PMID: 9371495
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