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5. 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; Hodgson SV; Hunter A; Korf BR; Manchester D; Miesfeldt S; Murday VA; Nathanson KL; Parisi M; Pober B; Romano C; Eng C Hum Mol Genet; 1999 Aug; 8(8):1461-72. PubMed ID: 10400993 [TBL] [Abstract][Full Text] [Related]
6. Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. Celebi JT; Tsou HC; Chen FF; Zhang H; Ping XL; Lebwohl MG; Kezis J; Peacocke M J Med Genet; 1999 May; 36(5):360-4. PubMed ID: 10353779 [TBL] [Abstract][Full Text] [Related]
7. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Zori RT; Marsh DJ; Graham GE; Marliss EB; Eng C Am J Med Genet; 1998 Dec; 80(4):399-402. PubMed ID: 9856571 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 11238682 [TBL] [Abstract][Full Text] [Related]
9. Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome. Sawada T; Okada T; Miwa K; Satoh H; Asano A; Mabuchi H Am J Med Genet A; 2004 Jul; 128A(1):12-4. PubMed ID: 15211648 [TBL] [Abstract][Full Text] [Related]
10. Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome without germline PTEN mutations. Dahia PM; Gimm O; Chi H; Marsh DJ; Reynolds PR; Eng C J Med Genet; 2000 Sep; 37(9):715-7. PubMed ID: 11182934 [No Abstract] [Full Text] [Related]
11. Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation. Marsh DJ; Dahia PL; Coulon V; Zheng Z; Dorion-Bonnet F; Call KM; Little R; Lin AY; Eeles RA; Goldstein AM; Hodgson SV; Richardson AL; Robinson BG; Weber HC; Longy M; Eng C Genes Chromosomes Cancer; 1998 Jan; 21(1):61-9. PubMed ID: 9443042 [TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 12844284 [TBL] [Abstract][Full Text] [Related]
13. PTEN: one gene, many syndromes. Eng C Hum Mutat; 2003 Sep; 22(3):183-98. PubMed ID: 12938083 [TBL] [Abstract][Full Text] [Related]
14. Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. Sutphen R; Diamond TM; Minton SE; Peacocke M; Tsou HC; Root AW Am J Med Genet; 1999 Feb; 82(4):290-3. PubMed ID: 10051160 [TBL] [Abstract][Full Text] [Related]
15. PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome. Bussaglia E; Pujol RM; Gil MJ; Martí RM; Tuneu A; Febrer MI; Garcia-Patos V; Ruiz EM; Barnadas M; Alegre M; Serrano S; Matias-Guiu X J Invest Dermatol; 2002 Apr; 118(4):639-44. PubMed ID: 11918710 [TBL] [Abstract][Full Text] [Related]
16. Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. Hendriks YM; Verhallen JT; van der Smagt JJ; Kant SG; Hilhorst Y; Hoefsloot L; Hansson KB; van der Straaten PJ; Boutkan H; Breuning MH; Vasen HF; Bröcker-Vriends AH Fam Cancer; 2003; 2(2):79-85. PubMed ID: 14574156 [TBL] [Abstract][Full Text] [Related]
17. Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome. Kim DK; Myung SJ; Yang SK; Hong SS; Kim KJ; Byeon JS; Lee GH; Kim JH; Min YI; Lee SM; Jeong JY; Song K; Jung SA Dis Colon Rectum; 2005 Sep; 48(9):1714-22. PubMed ID: 16007494 [TBL] [Abstract][Full Text] [Related]
18. Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. Figer A; Kaplan A; Frydman M; Lev D; Paswell J; Papa MZ; Goldman B; Friedman E Clin Genet; 2002 Oct; 62(4):298-302. PubMed ID: 12372056 [TBL] [Abstract][Full Text] [Related]
19. Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome. Raizis AM; Ferguson MM; Robinson BA; Atkinson CH; George PM Mol Pathol; 1998 Dec; 51(6):339-41. PubMed ID: 10193515 [TBL] [Abstract][Full Text] [Related]
20. Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. Sawada T; Hamano N; Satoh H; Okada T; Takeda Y; Mabuchi H Jpn J Cancer Res; 2000 Jul; 91(7):700-5. PubMed ID: 10920277 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]