BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 25727835)

  • 1. [Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].
    Cammarata-Scalisi F; Cozar M; Grinberg D; Balcells S; Asteggiano CG; Martínez-Domenech G; Bracho A; Sánchez Y; Stock F; Delgado-Luengo W; Zara-Chirinos C; Chacín JA
    Arch Argent Pediatr; 2015 Apr; 113(2):e109-12. PubMed ID: 25727835
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.
    Chen WC; Chi CH; Chuang CC; Jou IM
    J Formos Med Assoc; 2006 May; 105(5):434-7. PubMed ID: 16638657
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.
    Jamsheer A; Socha M; Sowińska-Seidler A; Telega K; Trzeciak T; Latos-Bieleńska A
    J Appl Genet; 2014 May; 55(2):183-8. PubMed ID: 24532482
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
    Lemos MC; Kotanko P; Christie PT; Harding B; Javor T; Smith C; Eastell R; Thakker RV
    J Clin Endocrinol Metab; 2005 Sep; 90(9):5386-92. PubMed ID: 15985493
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
    Stancheva-Ivanova MK; Wuyts W; van Hul E; Radeva BI; Vazharova RV; Sokolov TP; Vladimirov BY; Apostolova MD; Kremensky IM
    J Inherit Metab Dis; 2011 Aug; 34(4):917-21. PubMed ID: 21499719
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
    Ciavarella M; Coco M; Baorda F; Stanziale P; Chetta M; Bisceglia L; Palumbo P; Bengala M; Raiteri P; Silengo M; Caldarini C; Facchini R; Lala R; Cavaliere ML; De Brasi D; Pasini B; Zelante L; Guarnieri V; D'Agruma L
    Gene; 2013 Feb; 515(2):339-48. PubMed ID: 23262345
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
    Wuyts W; Van Hul W
    Hum Mutat; 2000; 15(3):220-7. PubMed ID: 10679937
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.
    Park KJ; Shin KH; Ku JL; Cho TJ; Lee SH; Choi IH; Phillipe C; Monaco AP; Porter DE; Park JG
    J Hum Genet; 1999; 44(4):230-4. PubMed ID: 10429361
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.
    Cao L; Liu F; Kong M; Fang Y; Gu H; Chen Y; Zhao C; Zhang S; Bi Q
    Oncol Rep; 2014 Feb; 31(2):713-8. PubMed ID: 24297320
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.
    Vanita V; Sperling K; Sandhu HS; Sandhu PS; Singh JR
    Genet Test Mol Biomarkers; 2009 Feb; 13(1):43-9. PubMed ID: 19309273
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [From gene to disease; hereditary multiple exostoses].
    Wuyts W; Bovée JV; Hogendoorn PC
    Ned Tijdschr Geneeskd; 2002 Jan; 146(4):162-4. PubMed ID: 11845565
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [A new EXT2 mutation in a Chinese family with hereditary multiple exostoses].
    Zhao WQ; Song SJ; Wei Q; Qiao J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):241-4. PubMed ID: 19504431
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses.
    Foroughmand AM; Galehdari H; Rasouli M; Mohammadian G; Mohammadi M
    Pak J Biol Sci; 2008 Apr; 11(7):1037-41. PubMed ID: 18810975
    [TBL] [Abstract][Full Text] [Related]  

  • 14. One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
    Kojima H; Wada T; Seki H; Kubota T; Wakui K; Fukushima Y
    Genet Test; 2008 Dec; 12(4):557-61. PubMed ID: 18976157
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.
    Sgariglia F; Pedrini E; Bradfield JP; Bhatti TR; D'Adamo P; Dormans JP; Gunawardena AT; Hakonarson H; Hecht JT; Sangiorgi L; Pacifici M; Enomoto-Iwamoto M; Grant SF
    Bone; 2015 Mar; 72():123-7. PubMed ID: 25498973
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.
    Delgado MA; Martinez-Domenech G; Sarrión P; Urreizti R; Zecchini L; Robledo HH; Segura F; de Kremer RD; Balcells S; Grinberg D; Asteggiano CG
    Sci Rep; 2014 Sep; 4():6407. PubMed ID: 25230886
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Novel mutation of Y271H in EXT1 gene causes multiple exostoses].
    Li W; Hu ZM; Xie ZG; He HB; Pan Q; Xia K; Xia JH
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2007 Aug; 32(4):546-50. PubMed ID: 17767039
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.
    Cousminer DL; Arkader A; Voight BF; Pacifici M; Grant SFA
    Bone; 2016 Nov; 92():196-200. PubMed ID: 27616605
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probands.
    Albokhari D; Bailey CR; Hwang F; Weiss CR; Forsberg J; Sobreira N
    Am J Med Genet A; 2023 Jun; 191(6):1570-1575. PubMed ID: 36869625
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis.
    Xiao CY; Wang J; Zhang SZ; Van Hul W; Wuyts W; Qiu WM; Wu H; Zhang G
    Br J Cancer; 2001 Jul; 85(2):176-81. PubMed ID: 11461073
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.