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The Clinical Spectrum of PTEN Mutations.
Yehia L, Keel E, Eng C. Yehia L, et al. Among authors: eng c. Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823. Epub 2019 Aug 21. Annu Rev Med. 2020. PMID: 31433956 Review.
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. Marsh DJ, et al. Among authors: eng c. Hum Mol Genet. 1999 Aug;8(8):1461-72. doi: 10.1093/hmg/8.8.1461. Hum Mol Genet. 1999. PMID: 10400993
Genetic testing for cancer predisposition.
Eng C, Hampel H, de la Chapelle A. Eng C, et al. Annu Rev Med. 2001;52:371-400. doi: 10.1146/annurev.med.52.1.371. Annu Rev Med. 2001. PMID: 11160785 Review.
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. Zhou XP, et al. Among authors: eng c. Am J Hum Genet. 2003 Aug;73(2):404-11. doi: 10.1086/377109. Epub 2003 Jul 3. Am J Hum Genet. 2003. PMID: 12844284 Free PMC article.
PTEN: one gene, many syndromes.
Eng C. Eng C. Hum Mutat. 2003 Sep;22(3):183-98. doi: 10.1002/humu.10257. Hum Mutat. 2003. PMID: 12938083 Review.
1,863 results