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PTEN mutations and proteus syndrome.
Biesecker LG, Rosenberg MJ, Vacha S, Turner JT, Cohen MM. Biesecker LG, et al. Among authors: turner jt. Lancet. 2001 Dec 15;358(9298):2079-80. doi: 10.1016/S0140-6736(01)07109-4. Lancet. 2001. PMID: 11755638 No abstract available.
Proteus syndrome: misdiagnosis with PTEN mutations.
Cohen MM Jr, Turner JT, Biesecker LG. Cohen MM Jr, et al. Among authors: turner jt. Am J Med Genet A. 2003 Nov 1;122A(4):323-4. doi: 10.1002/ajmg.a.20474. Am J Med Genet A. 2003. PMID: 14518070 No abstract available.
Radiologic manifestations of Proteus syndrome.
Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL. Jamis-Dow CA, et al. Radiographics. 2004 Jul-Aug;24(4):1051-68. doi: 10.1148/rg.244035726. Radiographics. 2004. PMID: 15256628 Review.
Evolution of skin lesions in Proteus syndrome.
Twede JV, Turner JT, Biesecker LG, Darling TN. Twede JV, et al. Among authors: turner jt. J Am Acad Dermatol. 2005 May;52(5):834-8. doi: 10.1016/j.jaad.2004.12.047. J Am Acad Dermatol. 2005. PMID: 15858474
A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG. Lindhurst MJ, et al. N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27. N Engl J Med. 2011. PMID: 21793738 Free PMC article.
Gonadal mosaicism in severe Pallister-Hall syndrome.
Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG. Ng D, et al. Among authors: turner jt. Am J Med Genet A. 2004 Jan 30;124A(3):296-302. doi: 10.1002/ajmg.a.20338. Am J Med Genet A. 2004. PMID: 14708104
112 results