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Results: 1 to 20 of 88

1.

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]
2.

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
3.

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
4.

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]
5.

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT.

Am J Med Genet A. 2014 Sep;164(9):2360-4. doi: 10.1002/ajmg.a.36622. Epub 2014 Jun 5.

PMID:
24903541
[PubMed - in process]
6.

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

Castiglioni C, Bertini E, Orellana P, Villarroel C, Las Heras F, Hinzpeter D, Paolinelli P, Bevilacqua JA, Alvarez K.

Am J Med Genet A. 2014 Sep;164(9):2365-9. doi: 10.1002/ajmg.a.36651. Epub 2014 Jun 26.

PMID:
24975390
[PubMed - in process]
7.

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]
8.

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
9.

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]
10.

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
11.

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

Döcker D, Schubach M, Menzel M, Spaich C, Gabriel HD, Zenker M, Bartholdi D, Biskup S.

Eur J Hum Genet. 2014 Jun 18. doi: 10.1038/ejhg.2014.118. [Epub ahead of print]

PMID:
24939587
[PubMed - as supplied by publisher]
12.

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

Mirzaa GM, Rivière JB, Dobyns WB.

Am J Med Genet C Semin Med Genet. 2013 May;163C(2):122-30. doi: 10.1002/ajmg.c.31361. Epub 2013 Apr 16.

PMID:
23592320
[PubMed - indexed for MEDLINE]
13.

[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]
14.

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

Tapper WJ, Foulds N, Cross NC, Aranaz P, Score J, Hidalgo-Curtis C, Robinson DO, Gibson J, Ennis S, Temple IK, Collins A.

PLoS One. 2014 Jan 31;9(1):e86940. doi: 10.1371/journal.pone.0086940. eCollection 2014.

PMID:
24497998
[PubMed - in process]
Free PMC Article
15.

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R.

Am J Med Genet. 2001 Aug 1;102(2):161-8.

PMID:
11477610
[PubMed - indexed for MEDLINE]
16.

High frequency of activating PIK3CA mutations in human papillomavirus-positive oropharyngeal cancer.

Nichols AC, Palma DA, Chow W, Tan S, Rajakumar C, Rizzo G, Fung K, Kwan K, Wehrli B, Winquist E, Koropatnick J, Mymryk JS, Yoo J, Barrett JW.

JAMA Otolaryngol Head Neck Surg. 2013 Jun;139(6):617-22. doi: 10.1001/jamaoto.2013.3210.

PMID:
23787421
[PubMed - indexed for MEDLINE]
17.

PIK3CA and PTEN mutations in uterine endometrioid carcinoma and complex atypical hyperplasia.

Hayes MP, Wang H, Espinal-Witter R, Douglas W, Solomon GJ, Baker SJ, Ellenson LH.

Clin Cancer Res. 2006 Oct 15;12(20 Pt 1):5932-5.

PMID:
17062663
[PubMed - indexed for MEDLINE]
Free Article
18.

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.

Mol Vis. 2013 Nov 7;19:2187-95. eCollection 2013.

PMID:
24227914
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

Omoyinmi E, Melo Gomes S, Standing A, Rowczenio DM, Eleftheriou D, Klein N, Aróstegui JI, Lachmann HJ, Hawkins PN, Brogan PA.

Arthritis Rheumatol. 2014 Jan;66(1):197-202. doi: 10.1002/art.38217.

PMID:
24431285
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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]

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