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Items: 1 to 20 of 23

1.

Assessment and management of the orthopedic and other complications of Proteus syndrome.

Tosi LL, Sapp JC, Allen ES, O'Keefe RJ, Biesecker LG.

J Child Orthop. 2011 Oct;5(5):319-27.

2.

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.

Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332.

3.

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML.

Am J Hum Genet. 2012 Jun 8;90(6):1108-15. doi: 10.1016/j.ajhg.2012.05.006.

4.

Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA.

Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010.

5.

An activating mutation of AKT2 and human hypoglycemia.

Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK.

Science. 2011 Oct 28;334(6055):474. doi: 10.1126/science.1210878.

6.

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.

N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017.

7.

Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome.

Beachkofsky TM, Sapp JC, Biesecker LG, Darling TN.

J Am Acad Dermatol. 2010 Nov;63(5):799-804. doi: 10.1016/j.jaad.2009.12.012.

8.

Genetic variation in AKT1 is linked to dopamine-associated prefrontal cortical structure and function in humans.

Tan HY, Nicodemus KK, Chen Q, Li Z, Brooke JK, Honea R, Kolachana BS, Straub RE, Meyer-Lindenberg A, Sei Y, Mattay VS, Callicott JH, Weinberger DR.

J Clin Invest. 2008 Jun;118(6):2200-8. doi: 10.1172/JCI34725.

9.

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.

Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG.

Am J Med Genet A. 2007 Dec 15;143A(24):2944-58.

PMID:
17963221
10.

Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma.

Turner J, Biesecker B, Leib J, Biesecker L, Peters KF.

Am J Med Genet A. 2007 Sep 15;143A(18):2089-97.

PMID:
17702022
11.

A transforming mutation in the pleckstrin homology domain of AKT1 in cancer.

Carpten JD, Faber AL, Horn C, Donoho GP, Briggs SL, Robbins CM, Hostetter G, Boguslawski S, Moses TY, Savage S, Uhlik M, Lin A, Du J, Qian YW, Zeckner DJ, Tucker-Kellogg G, Touchman J, Patel K, Mousses S, Bittner M, Schevitz R, Lai MH, Blanchard KL, Thomas JE.

Nature. 2007 Jul 26;448(7152):439-44.

PMID:
17611497
12.

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

Caux F, Plauchu H, Chibon F, Faivre L, Fain O, Vabres P, Bonnet F, Selma ZB, Laroche L, GĂ©rard M, Longy M.

Eur J Hum Genet. 2007 Jul;15(7):767-73.

13.

Type 2 segmental Cowden disease vs. Proteus syndrome.

Happle R.

Br J Dermatol. 2007 May;156(5):1089-90. No abstract available.

PMID:
17388921
14.

The challenges of Proteus syndrome: diagnosis and management.

Biesecker L.

Eur J Hum Genet. 2006 Nov;14(11):1151-7. Review.

15.

Evolution of skin lesions in Proteus syndrome.

Twede JV, Turner JT, Biesecker LG, Darling TN.

J Am Acad Dermatol. 2005 May;52(5):834-8.

PMID:
15858474
16.

Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.

Turner JT, Cohen MM Jr, Biesecker LG.

Am J Med Genet A. 2004 Oct 1;130A(2):111-22. Review.

PMID:
15372514
17.

Radiologic manifestations of Proteus syndrome.

Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL.

Radiographics. 2004 Jul-Aug;24(4):1051-68. Review.

PMID:
15256628
18.

The multifaceted challenges of Proteus syndrome.

Biesecker LG.

JAMA. 2001 May 2;285(17):2240-3.

PMID:
11325326
19.

Sudden death caused by pulmonary thromboembolism in Proteus syndrome.

Slavotinek AM, Vacha SJ, Peters KF, Biesecker LG.

Clin Genet. 2000 Nov;58(5):386-9.

PMID:
11140839
20.

Klippel-Trenaunay syndrome.

Cohen MM Jr.

Am J Med Genet. 2000 Jul 31;93(3):171-5. No abstract available.

PMID:
10925375

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