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Items: 1 to 20 of 119

1.

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C.

Am J Hum Genet. 2013 Jan 10;92(1):76-80. doi: 10.1016/j.ajhg.2012.10.021. Epub 2012 Dec 13.

2.

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C.

Am J Hum Genet. 2008 Aug;83(2):261-8. doi: 10.1016/j.ajhg.2008.07.011.

3.

Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.

Bennett KL, Mester J, Eng C.

JAMA. 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877.

4.

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C.

Am J Hum Genet. 2003 Aug;73(2):404-11. Epub 2003 Jul 3.

5.

Germline PTEN mutations in Cowden syndrome-like families.

Marsh DJ, Dahia PL, Caron S, Kum JB, Frayling IM, Tomlinson IP, Hughes KS, Eeles RA, Hodgson SV, Murday VA, Houlston R, Eng C.

J Med Genet. 1998 Nov;35(11):881-5.

6.

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al.

Hum Mol Genet. 1998 Mar;7(3):507-15.

PMID:
9467011
7.

[Germline mutations in PIK3CA and AKT1 in Cowden syndrome and related diseases].

Dereure O.

Ann Dermatol Venereol. 2013 Nov;140(11):739-40. doi: 10.1016/j.annder.2013.06.006. Epub 2013 Jul 30. French. No abstract available.

PMID:
24206815
8.

PTEN lipid phosphatase activity and proper subcellular localization are necessary and sufficient for down-regulating AKT phosphorylation in the nucleus in Cowden syndrome.

He X, Saji M, Radhakrishnan D, Romigh T, Ngeow J, Yu Q, Wang Y, Ringel MD, Eng C.

J Clin Endocrinol Metab. 2012 Nov;97(11):E2179-87. doi: 10.1210/jc.2012-1991. Epub 2012 Sep 7.

9.

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

Ni Y, He X, Chen J, Moline J, Mester J, Orloff MS, Ringel MD, Eng C.

Hum Mol Genet. 2012 Jan 15;21(2):300-10. doi: 10.1093/hmg/ddr459. Epub 2011 Oct 6.

10.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al.

Hum Mol Genet. 1999 Aug;8(8):1461-72.

PMID:
10400993
11.

PTEN: one gene, many syndromes.

Eng C.

Hum Mutat. 2003 Sep;22(3):183-98. Review.

PMID:
12938083
12.

PTEN hamartoma tumor syndromes.

Blumenthal GM, Dennis PA.

Eur J Hum Genet. 2008 Nov;16(11):1289-300. doi: 10.1038/ejhg.2008.162. Epub 2008 Sep 10. Review.

13.

Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer.

Ngeow J, Ni Y, Tohme R, Song Chen F, Bebek G, Eng C.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1316-21. doi: 10.1210/jc.2014-1225. Epub 2014 Apr 8.

PMID:
24712574
14.

Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C.

J Clin Endocrinol Metab. 2011 Dec;96(12):E2063-71. doi: 10.1210/jc.2011-1616. Epub 2011 Sep 28.

15.

An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer.

Stemke-Hale K, Gonzalez-Angulo AM, Lluch A, Neve RM, Kuo WL, Davies M, Carey M, Hu Z, Guan Y, Sahin A, Symmans WF, Pusztai L, Nolden LK, Horlings H, Berns K, Hung MC, van de Vijver MJ, Valero V, Gray JW, Bernards R, Mills GB, Hennessy BT.

Cancer Res. 2008 Aug 1;68(15):6084-91. doi: 10.1158/0008-5472.CAN-07-6854.

16.

Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

Fackenthal JD, Marsh DJ, Richardson AL, Cummings SA, Eng C, Robinson BG, Olopade OI.

J Med Genet. 2001 Mar;38(3):159-64.

17.

PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol.

Ngeow J, Eng C.

Methods. 2015 May;77-78:11-9. doi: 10.1016/j.ymeth.2014.10.011. Epub 2014 Oct 22. Review.

PMID:
25461771
18.

Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

Zhou XP, Marsh DJ, Morrison CD, Chaudhury AR, Maxwell M, Reifenberger G, Eng C.

Am J Hum Genet. 2003 Nov;73(5):1191-8. Epub 2003 Oct 17.

19.

Cowden syndrome.

Gustafson S, Zbuk KM, Scacheri C, Eng C.

Semin Oncol. 2007 Oct;34(5):428-34. Review.

PMID:
17920899
20.

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C.

Am J Hum Genet. 2011 Jan 7;88(1):42-56. doi: 10.1016/j.ajhg.2010.11.013. Epub 2010 Dec 30.

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