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PTEN hamartoma tumour syndrome: variability of an entity.
Merks JH, de Vries LS, Zhou XP, Nikkels P, Barth PG, Eng C, Hennekam RC. Merks JH, et al. Among authors: eng c. J Med Genet. 2003 Oct;40(10):e111. doi: 10.1136/jmg.40.10.e111. J Med Genet. 2003. PMID: 14569134 Free PMC article. No abstract available.
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH. Hopman SM, et al. Among authors: eng c. Am J Med Genet A. 2012 Jul;158A(7):1719-23. doi: 10.1002/ajmg.a.35406. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628360
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: eng c. 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.
PTEN mutations and proteus syndrome.
Eng C, Thiele H, Zhou XP, Gorlin RJ, Hennekam RC, Winter RM. Eng C, et al. Lancet. 2001 Dec 15;358(9298):2079-80. doi: 10.1016/S0140-6736(01)07110-0. Lancet. 2001. PMID: 11755639 No abstract available.
1,902 results