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3. 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]
4. The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors. Eng C Recent Prog Horm Res; 1999; 54():441-52; discussion 453. PubMed ID: 10548886 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. PTEN: one gene, many syndromes. Eng C Hum Mutat; 2003 Sep; 22(3):183-98. PubMed ID: 12938083 [TBL] [Abstract][Full Text] [Related]
8. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Arch EM; Goodman BK; Van Wesep RA; Liaw D; Clarke K; Parsons R; McKusick VA; Geraghty MT Am J Med Genet; 1997 Sep; 71(4):489-93. PubMed ID: 9286463 [TBL] [Abstract][Full Text] [Related]
9. A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. Reardon W; Zhou XP; Eng C J Med Genet; 2001 Dec; 38(12):820-3. PubMed ID: 11748304 [TBL] [Abstract][Full Text] [Related]
10. Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. Longy M; Coulon V; Duboué B; David A; Larrègue M; Eng C; Amati P; Kraimps JL; Bottani A; Lacombe D; Bonneau D J Med Genet; 1998 Nov; 35(11):886-9. PubMed ID: 9832032 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease. Blum RR; Rahimizadeh A; Kardon N; Lebwohl M; Wei H J Cutan Med Surg; 2001; 5(3):228-30. PubMed ID: 11685670 [TBL] [Abstract][Full Text] [Related]
13. Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Zhou XP; Marsh DJ; Hampel H; Mulliken JB; Gimm O; Eng C Hum Mol Genet; 2000 Mar; 9(5):765-8. PubMed ID: 10749983 [TBL] [Abstract][Full Text] [Related]
14. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. Parisi MA; Dinulos MB; Leppig KA; Sybert VP; Eng C; Hudgins L J Med Genet; 2001 Jan; 38(1):52-8. PubMed ID: 11332402 [No Abstract] [Full Text] [Related]
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17. 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]
18. 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]
19. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. Pilarski R; Stephens JA; Noss R; Fisher JL; Prior TW J Med Genet; 2011 Aug; 48(8):505-12. PubMed ID: 21659347 [TBL] [Abstract][Full Text] [Related]
20. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Zhou X; Hampel H; Thiele H; Gorlin RJ; Hennekam RC; Parisi M; Winter RM; Eng C Lancet; 2001 Jul; 358(9277):210-1. PubMed ID: 11476841 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]