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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: mecklin jp. 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.
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: mecklin jp. Genes Chromosomes Cancer. 1999 Sep;26(1):54-61. doi: 10.1002/(sici)1098-2264(199909)26:1<54::aid-gcc8>3.0.co;2-d. Genes Chromosomes Cancer. 1999. PMID: 10441006
LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.
Volikos E, Robinson J, Aittomäki K, Mecklin JP, Järvinen H, Westerman AM, de Rooji FW, Vogel T, Moeslein G, Launonen V, Tomlinson IP, Silver AR, Aaltonen LA. Volikos E, et al. Among authors: mecklin jp. J Med Genet. 2006 May;43(5):e18. doi: 10.1136/jmg.2005.039875. J Med Genet. 2006. PMID: 16648371 Free PMC article.
Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer.
Loukola A, Salovaara R, Kristo P, Moisio AL, Kääriäinen H, Ahtola H, Eskelinen M, Härkönen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Järvinen H, Mecklin JP, de la Chapelle A, Aaltonen LA. Loukola A, et al. Among authors: mecklin jp. Am J Pathol. 1999 Dec;155(6):1849-53. doi: 10.1016/S0002-9440(10)65503-4. Am J Pathol. 1999. PMID: 10595914 Free PMC article.
311 results