219 related articles for article (PubMed ID: 15806394)
1. 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]
2. 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]
3. 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]
4. A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.
Stoeva R; Grozdanova L; Scherer G; Krasteva M; Bausch E; Krastev T; Linev A; Stefanova M
Genet Couns; 2011; 22(1):49-53. PubMed ID: 21614988
[TBL] [Abstract][Full Text] [Related]
5. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.
Velagaleti GV; Bien-Willner GA; Northup JK; Lockhart LH; Hawkins JC; Jalal SM; Withers M; Lupski JR; Stankiewicz P
Am J Hum Genet; 2005 Apr; 76(4):652-62. PubMed ID: 15726498
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene.
Chen SY; Lin SJ; Tsai LP; Chou YY
Urology; 2012 Apr; 79(4):908-11. PubMed ID: 21962881
[TBL] [Abstract][Full Text] [Related]
9. Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.
Smyk M; Obersztyn E; Nowakowska B; Bocian E; Cheung SW; Mazurczak T; Stankiewicz P
Am J Med Genet A; 2007 Apr; 143A(8):866-70. PubMed ID: 17352389
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
Preiss S; Argentaro A; Clayton A; John A; Jans DA; Ogata T; Nagai T; Barroso I; Schafer AJ; Harley VR
J Biol Chem; 2001 Jul; 276(30):27864-72. PubMed ID: 11323423
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Campomelic syndrome and deletion of SOX9.
Olney PN; Kean LS; Graham D; Elsas LJ; May KM
Am J Med Genet; 1999 May; 84(1):20-4. PubMed ID: 10213041
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Autosomal XX sex reversal caused by duplication of SOX9.
Huang B; Wang S; Ning Y; Lamb AN; Bartley J
Am J Med Genet; 1999 Dec; 87(4):349-53. PubMed ID: 10588843
[TBL] [Abstract][Full Text] [Related]
20. Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.
Savarirayan R; Bankier A
J Med Genet; 1998 Jul; 35(7):597-9. PubMed ID: 9678706
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
