BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 17185244)

  • 1. Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal.
    Hsiao HP; Tsai LP; Chao MC; Tseng HI; Chang YC
    J Formos Med Assoc; 2006 Dec; 105(12):1013-6. PubMed ID: 17185244
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.
    Kwok C; Weller PA; Guioli S; Foster JW; Mansour S; Zuffardi O; Punnett HH; Dominguez-Steglich MA; Brook JD; Young ID
    Am J Hum Genet; 1995 Nov; 57(5):1028-36. PubMed ID: 7485151
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
    Meyer J; Südbeck P; Held M; Wagner T; Schmitz ML; Bricarelli FD; Eggermont E; Friedrich U; Haas OA; Kobelt A; Leroy JG; Van Maldergem L; Michel E; Mitulla B; Pfeiffer RA; Schinzel A; Schmidt H; Scherer G
    Hum Mol Genet; 1997 Jan; 6(1):91-8. PubMed ID: 9002675
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.
    Cameron FJ; Hageman RM; Cooke-Yarborough C; Kwok C; Goodwin LL; Sillence DO; Sinclair AH
    Hum Mol Genet; 1996 Oct; 5(10):1625-30. PubMed ID: 8894698
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A case of campomelic dysplasia without sex reversal.
    Kim HY; Yoon CH; Kim GH; Yoo HW; Lee BS; Kim KS; Kim EA
    J Korean Med Sci; 2011 Jan; 26(1):143-5. PubMed ID: 21218044
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic study of SOX9 in a case of campomelic dysplasia.
    Giordano J; Prior HM; Bamforth JS; Walter MA
    Am J Med Genet; 2001 Jan; 98(2):176-81. PubMed ID: 11223854
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.
    Jakubiczka S; Bettecken T; Koch G; Tüysüz B; Wollnik B; Wieacker P
    Clin Dysmorphol; 2001 Jul; 10(3):197-201. PubMed ID: 11446414
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal.
    Ninomiya S; Yokoyama Y; Teraoka M; Mori R; Inoue C; Yamashita S; Tamai H; Funato M; Seino Y
    Clin Genet; 2000 Sep; 58(3):224-7. PubMed ID: 11076045
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Acampomelic campomelic syndrome.
    Moog U; Jansen NJ; Scherer G; Schrander-Stumpel CT
    Am J Med Genet; 2001 Dec; 104(3):239-45. PubMed ID: 11754051
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.
    Wagner T; Wirth J; Meyer J; Zabel B; Held M; Zimmer J; Pasantes J; Bricarelli FD; Keutel J; Hustert E; Wolf U; Tommerup N; Schempp W; Scherer G
    Cell; 1994 Dec; 79(6):1111-20. PubMed ID: 8001137
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.
    Foster JW
    Acta Paediatr Jpn; 1996 Aug; 38(4):405-11. PubMed ID: 8840554
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The role of SOX9 in autosomal sex reversal and campomelic dysplasia.
    Schafer AJ; Dominguez-Steglich MA; Guioli S; Kwok C; Weller PA; Stevanovic M; Weissenbach J; Mansour S; Young ID; Goodfellow PN
    Philos Trans R Soc Lond B Biol Sci; 1995 Nov; 350(1333):271-7; discussion 277-8. PubMed ID: 8570691
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation.
    Kwok C; Goodfellow PN; Hawkins JR
    J Med Genet; 1996 Sep; 33(9):800-1. PubMed ID: 8880588
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.
    Pop R; Zaragoza MV; Gaudette M; Dohrmann U; Scherer G
    Hum Genet; 2005 Jun; 117(1):43-53. PubMed ID: 15806394
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.
    Leipoldt M; Erdel M; Bien-Willner GA; Smyk M; Theurl M; Yatsenko SA; Lupski JR; Lane AH; Shanske AL; Stankiewicz P; Scherer G
    Clin Genet; 2007 Jan; 71(1):67-75. PubMed ID: 17204049
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.
    Wirth J; Wagner T; Meyer J; Pfeiffer RA; Tietze HU; Schempp W; Scherer G
    Hum Genet; 1996 Feb; 97(2):186-93. PubMed ID: 8566951
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
    Sock E; Pagon RA; Keymolen K; Lissens W; Wegner M; Scherer G
    Hum Mol Genet; 2003 Jun; 12(12):1439-47. PubMed ID: 12783851
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.
    Michel-Calemard L; Lesca G; Morel Y; Boggio D; Plauchu H; Attia-Sobol J
    Prenat Diagn; 2004 Jul; 24(7):519-23. PubMed ID: 15300742
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.
    Schafer AJ; Foster JW; Kwok C; Weller PA; Guioli S; Goodfellow PN
    Ann N Y Acad Sci; 1996 Jun; 785():137-49. PubMed ID: 8702120
    [No Abstract]   [Full Text] [Related]  

  • 20. Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
    Goji K; Nishijima E; Tsugawa C; Nishio H; Pokharel RK; Matsuo M
    Hum Mutat; 1998; Suppl 1():S114-6. PubMed ID: 9452059
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.