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Page 1
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: gorlin rj. Hum Mol Genet. 1999 Aug;8(8):1461-72. doi: 10.1093/hmg/8.8.1461. Hum Mol Genet. 1999. PMID: 10400993
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. Marsh DJ, et al. Among authors: gorlin rj. Hum Mol Genet. 1998 Mar;7(3):507-15. doi: 10.1093/hmg/7.3.507. Hum Mol Genet. 1998. PMID: 9467011
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Mariman EC, Padberg GW, Kremer H. Nelen MR, et al. Among authors: gorlin rj. Hum Mol Genet. 1997 Aug;6(8):1383-7. doi: 10.1093/hmg/6.8.1383. Hum Mol Genet. 1997. PMID: 9259288 Free article.
PTEN mutations and proteus syndrome.
Eng C, Thiele H, Zhou XP, Gorlin RJ, Hennekam RC, Winter RM. Eng C, et al. Among authors: gorlin rj. Lancet. 2001 Dec 15;358(9298):2079-80. doi: 10.1016/S0140-6736(01)07110-0. Lancet. 2001. PMID: 11755639 No abstract available.
Photographic documentation of syndrome diagnosis.
Allanson J, Hunter A, Cassidy S, Curry C, Donnai D, Fraser C, Gorlin R, Graham J, Hall B, Hall J, Jones KL, Stevenson R, Winter R. Allanson J, et al. Am J Med Genet. 1997 Feb 11;68(4):487-8. doi: 10.1002/(sici)1096-8628(19970211)68:4<487::aid-ajmg25>3.0.co;2-n. Am J Med Genet. 1997. PMID: 9021028 No abstract available.
Bannayan-Riley-Ruvalcaba syndrome.
Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA. Gorlin RJ, et al. Am J Med Genet. 1992 Oct 1;44(3):307-14. doi: 10.1002/ajmg.1320440309. Am J Med Genet. 1992. PMID: 1336932
378 results