BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

189 related articles for article (PubMed ID: 16773562)

  • 1. Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
    Sarquis MS; Agrawal S; Shen L; Pilarski R; Zhou XP; Eng C
    Am J Hum Genet; 2006 Jul; 79(1):23-30. PubMed ID: 16773562
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer.
    Agrawal S; Eng C
    Hum Mol Genet; 2006 Mar; 15(5):777-87. PubMed ID: 16436456
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
    Yehia L; Ni Y; Sesock K; Niazi F; Fletcher B; Chen HJL; LaFramboise T; Eng C
    PLoS Genet; 2018 Apr; 14(4):e1007352. PubMed ID: 29684080
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
    Lachlan KL; Lucassen AM; Bunyan D; Temple IK
    J Med Genet; 2007 Sep; 44(9):579-85. PubMed ID: 17526800
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome.
    Pezzolesi MG; Platzer P; Waite KA; Eng C
    Am J Hum Genet; 2008 May; 82(5):1141-9. PubMed ID: 18460397
    [TBL] [Abstract][Full Text] [Related]  

  • 7. PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
    Piccione M; Fragapane T; Antona V; Giachino D; Cupido F; Corsello G
    Am J Med Genet A; 2013 Nov; 161A(11):2902-8. PubMed ID: 24123798
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.
    Yehia L; Ni Y; Feng F; Seyfi M; Sadler T; Frazier TW; Eng C
    Am J Hum Genet; 2019 Oct; 105(4):813-821. PubMed ID: 31564436
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
    Chen HJ; Romigh T; Sesock K; Eng C
    Hum Mutat; 2017 Oct; 38(10):1372-1377. PubMed ID: 28677221
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PTEN: one gene, many syndromes.
    Eng C
    Hum Mutat; 2003 Sep; 22(3):183-98. PubMed ID: 12938083
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome.
    Carethers JM; Furnari FB; Zigman AF; Lavine JE; Jones MC; Graham GE; Teebi AS; Huang HJ; Ha HT; Chauhan DP; Chang CL; Cavenee WK; Boland CR
    Cancer Res; 1998 Jul; 58(13):2724-6. PubMed ID: 9661881
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.
    Agrawal S; Pilarski R; Eng C
    Hum Mol Genet; 2005 Aug; 14(16):2459-68. PubMed ID: 16014636
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Bannayan-Riley-Ruvalcaba syndrome with gingival hyperpigmentation and facial papules.
    Niklinska EB; Lyons EM; Hicks A; Zwerner JP; Albers SE
    Pediatr Dermatol; 2021 Sep; 38(5):1351-1353. PubMed ID: 34259361
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome.
    Pezzolesi MG; Zbuk KM; Waite KA; Eng C
    Hum Mol Genet; 2007 May; 16(9):1058-71. PubMed ID: 17341483
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.
    Pezzolesi MG; Li Y; Zhou XP; Pilarski R; Shen L; Eng C
    Am J Hum Genet; 2006 Nov; 79(5):923-34. PubMed ID: 17033968
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cowden syndrome.
    Gustafson S; Zbuk KM; Scacheri C; Eng C
    Semin Oncol; 2007 Oct; 34(5):428-34. PubMed ID: 17920899
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.