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Results: 1 to 20 of 97

1.

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. Epub 2012 May 31.

PMID:
22658544
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

PIK3CA activating mutations in facial infiltrating lipomatosis.

Maclellan RA, Luks VL, Vivero MP, Mulliken JB, Zurakowski D, Padwa BL, Warman ML, Greene AK, Kurek KC.

Plast Reconstr Surg. 2014 Jan;133(1):12e-9e. doi: 10.1097/01.prs.0000436822.26709.7c.

PMID:
24374682
[PubMed - indexed for MEDLINE]
3.

PIK3CA-Related Segmental Overgrowth .

Mirzaa G, Conway R, Graham JM, Dobyns WB.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2013 Aug 15.

PMID:
23946963
[PubMed]
Books & Documents
4.

Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.

Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van den Veyver IB.

Am J Med Genet A. 2014 Oct;164(10):2633-7. doi: 10.1002/ajmg.a.36672. Epub 2014 Jul 14.

PMID:
25044986
[PubMed - in process]
5.

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.

PMID:
22729222
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG.

Nat Genet. 2012 Jun 24;44(8):941-5. doi: 10.1038/ng.2329.

PMID:
22729223
[PubMed - indexed for MEDLINE]
7.

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.

Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M.

Hum Mol Genet. 2013 Feb 1;22(3):444-51. doi: 10.1093/hmg/dds440. Epub 2012 Oct 24.

PMID:
23100325
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

Hafner C, Toll A, Gantner S, Mauerer A, Lurkin I, Acquadro F, Fernández-Casado A, Zwarthoff EC, Dietmaier W, Baselga E, Parera E, Vicente A, Casanova A, Cigudosa J, Mentzel T, Pujol RM, Landthaler M, Real FX.

J Med Genet. 2012 Apr;49(4):249-53. doi: 10.1136/jmedgenet-2011-100637.

PMID:
22499344
[PubMed - indexed for MEDLINE]
9.

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.

Am J Med Genet A. 2014 Jul;164(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29.

PMID:
24782230
[PubMed - in process]
10.

[CLOVES syndrome: A malformational syndrome closely resembling Proteus syndrome].

Guillet A, Aubert H, Tessier MH, David A, Perret C, Penhoat M, Stalder JF, Barbarot S.

Ann Dermatol Venereol. 2014 Aug-Sep;141(8-9):507-13. doi: 10.1016/j.annder.2014.04.119. Epub 2014 Jun 2. French.

PMID:
25209813
[PubMed - in process]
11.

Phenotypic progression of skeletal anomalies in CLOVES syndrome.

Klein S, Stroberg A, Ghahremani S, Martinez-Agosto JA.

Am J Med Genet A. 2012 Jul;158A(7):1690-5. doi: 10.1002/ajmg.a.35383. Epub 2012 May 24.

PMID:
22628280
[PubMed - indexed for MEDLINE]
12.

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

Groesser L, Herschberger E, Ruetten A, Ruivenkamp C, Lopriore E, Zutt M, Langmann T, Singer S, Klingseisen L, Schneider-Brachert W, Toll A, Real FX, Landthaler M, Hafner C.

Nat Genet. 2012 Jun 10;44(7):783-7. doi: 10.1038/ng.2316.

PMID:
22683711
[PubMed - indexed for MEDLINE]
13.

Complex spinal-paraspinal fast-flow lesions in CLOVES syndrome: analysis of clinical and imaging findings in 6 patients.

Alomari AI, Chaudry G, Rodesch G, Burrows PE, Mulliken JB, Smith ER, Fishman SJ, Orbach DB.

AJNR Am J Neuroradiol. 2011 Nov-Dec;32(10):1812-7. doi: 10.3174/ajnr.A2349. Epub 2011 Feb 10.

PMID:
21310861
[PubMed - indexed for MEDLINE]
Free Article
14.

CLOVES syndrome.

Bloom J, Upton J 3rd.

J Hand Surg Am. 2013 Dec;38(12):2508-12. doi: 10.1016/j.jhsa.2013.08.120. Epub 2013 Oct 23. Review.

PMID:
24161472
[PubMed - indexed for MEDLINE]
15.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB.

Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331.

PMID:
22729224
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy.

Lee MS, Liang MG, Mulliken JB.

J Am Acad Dermatol. 2013 Oct;69(4):589-94. doi: 10.1016/j.jaad.2013.05.030. Epub 2013 Jul 29.

PMID:
23906555
[PubMed - indexed for MEDLINE]
17.

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E.

Neurology. 2004 Jul 13;63(1):51-6.

PMID:
15249610
[PubMed - indexed for MEDLINE]
18.

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA.

Am J Med Genet A. 2006 Jan 1;140(1):8-16.

PMID:
16372351
[PubMed - indexed for MEDLINE]
19.

Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.

Rasmussen M, Sunde L, Weigert KP, Bogaard PW, Lildballe DL.

Am J Med Genet A. 2014 May;164A(5):1318-21. doi: 10.1002/ajmg.a.36454. Epub 2014 Mar 24.

PMID:
24665065
[PubMed - in process]
20.

Detection of PIK3CA mutations in circulating free DNA in patients with breast cancer.

Board RE, Wardley AM, Dixon JM, Armstrong AC, Howell S, Renshaw L, Donald E, Greystoke A, Ranson M, Hughes A, Dive C.

Breast Cancer Res Treat. 2010 Apr;120(2):461-7. doi: 10.1007/s10549-010-0747-9. Epub 2010 Jan 28.

PMID:
20107891
[PubMed - indexed for MEDLINE]

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