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Germline mutation of the tumour suppressor PTEN in Proteus syndrome.
Smith JM, Kirk EP, Theodosopoulos G, Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ. Smith JM, et al. Among authors: marsh dj. J Med Genet. 2002 Dec;39(12):937-40. doi: 10.1136/jmg.39.12.937. J Med Genet. 2002. PMID: 12471211 Free PMC article. No abstract available.
Diagnosis of Proteus syndrome was correct.
Kirk EP, Smith JM, Field M, Marshall GM, Marsh DJ. Kirk EP, et al. Among authors: marsh dj. Am J Med Genet A. 2004 Oct 1;130A(2):214-5; author reply 216-7. doi: 10.1002/ajmg.a.30337. Am J Med Genet A. 2004. PMID: 15372511 No abstract available.
Rapamycin treatment for a child with germline PTEN mutation.
Marsh DJ, Trahair TN, Martin JL, Chee WY, Walker J, Kirk EP, Baxter RC, Marshall GM. Marsh DJ, et al. Nat Clin Pract Oncol. 2008 Jun;5(6):357-61. doi: 10.1038/ncponc1112. Epub 2008 Apr 22. Nat Clin Pract Oncol. 2008. PMID: 18431376
Mutant AKT1 in Proteus syndrome.
Marsh DJ, Trahair TN, Kirk EP. Marsh DJ, et al. N Engl J Med. 2011 Dec 1;365(22):2141-2; author reply 2142. doi: 10.1056/NEJMc1111367. N Engl J Med. 2011. PMID: 22129268 No abstract available.
Germline PTEN mutations in Cowden syndrome-like families.
Marsh DJ, Dahia PL, Caron S, Kum JB, Frayling IM, Tomlinson IP, Hughes KS, Eeles RA, Hodgson SV, Murday VA, Houlston R, Eng C. Marsh DJ, et al. J Med Genet. 1998 Nov;35(11):881-5. doi: 10.1136/jmg.35.11.881. J Med Genet. 1998. PMID: 9832031 Free PMC article.
343 results