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Page 1
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Darling TN, Burton-Akright J, Bagheri M, Dombi E, Gruber A, Jarosinski PF, Martin S, Nathan N, Paul SM, Savage RE, Wolters PL, Schwartz B, Widemann BC, Biesecker LG. Keppler-Noreuil KM, et al. Among authors: darling tn. Am J Hum Genet. 2019 Mar 7;104(3):484-491. doi: 10.1016/j.ajhg.2019.01.015. Epub 2019 Feb 22. Am J Hum Genet. 2019. PMID: 30803705 Free PMC article. Clinical Trial.
Evolution of skin lesions in Proteus syndrome.
Twede JV, Turner JT, Biesecker LG, Darling TN. Twede JV, et al. Among authors: darling tn. 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. Among authors: darling tn. 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.
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK. Lindhurst MJ, et al. Among authors: darling tn. Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332. Nat Genet. 2012. PMID: 22729222 Free PMC article.
AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome.
Lindhurst MJ, Wang JA, Bloomhardt HM, Witkowski AM, Singh LN, Bick DP, Gambello MJ, Powell CM, Lee CR, Darling TN, Biesecker LG. Lindhurst MJ, et al. Among authors: darling tn. J Invest Dermatol. 2014 Feb;134(2):543-546. doi: 10.1038/jid.2013.312. Epub 2013 Jul 24. J Invest Dermatol. 2014. PMID: 23884311 Free PMC article. No abstract available.
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG. Keppler-Noreuil KM, et al. Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29. Am J Med Genet A. 2014. PMID: 24782230 Free PMC article.
The Adult Phenotype of Tuberous Sclerosis Complex.
Nathan N, Burke K, Trickett C, Moss J, Darling TN. Nathan N, et al. Among authors: darling tn. Acta Derm Venereol. 2016 Feb;96(2):278-80. doi: 10.2340/00015555-2203. Acta Derm Venereol. 2016. PMID: 26258325 Free PMC article. No abstract available.
125 results