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Results: 1 to 20 of 163

1.

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 16;79(6):1111-20.

PMID:
8001137
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
8566951
[PubMed - indexed for MEDLINE]
3.

Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.

Foster JW.

Acta Paediatr Jpn. 1996 Aug;38(4):405-11. Review.

PMID:
8840554
[PubMed - indexed for MEDLINE]
4.

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, et al.

Philos Trans R Soc Lond B Biol Sci. 1995 Nov 29;350(1333):271-7; discussion 277-8.

PMID:
8570691
[PubMed - indexed for MEDLINE]
5.

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, et al.

Nature. 1994 Dec 8;372(6506):525-30.

PMID:
7990924
[PubMed - indexed for MEDLINE]
6.

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, et al.

Am J Hum Genet. 1995 Nov;57(5):1028-36.

PMID:
7485151
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
17204049
[PubMed - indexed for MEDLINE]
8.

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.

Pfeifer D, Kist R, Dewar K, Devon K, Lander ES, Birren B, Korniszewski L, Back E, Scherer G.

Am J Hum Genet. 1999 Jul;65(1):111-24.

PMID:
10364523
[PubMed - indexed for MEDLINE]
Free PMC Article
9.
10.

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. Epub 2005 Feb 22.

PMID:
15726498
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Sry and Sox9: mammalian testis-determining genes.

Koopman P.

Cell Mol Life Sci. 1999 Jun;55(6-7):839-56. Review.

PMID:
10412367
[PubMed - indexed for MEDLINE]
12.

Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia.

Kanai Y, Koopman P.

Hum Mol Genet. 1999 Apr;8(4):691-6.

PMID:
10072439
[PubMed - indexed for MEDLINE]
Free Article
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.

PMID:
8880588
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A male-specific role for SOX9 in vertebrate sex determination.

Kent J, Wheatley SC, Andrews JE, Sinclair AH, Koopman P.

Development. 1996 Sep;122(9):2813-22.

PMID:
8787755
[PubMed - indexed for MEDLINE]
Free Article
15.

The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos.

Wright E, Hargrave MR, Christiansen J, Cooper L, Kun J, Evans T, Gangadharan U, Greenfield A, Koopman P.

Nat Genet. 1995 Jan;9(1):15-20.

PMID:
7704017
[PubMed - indexed for MEDLINE]
16.

Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions.

Bagheri-Fam S, Ferraz C, Demaille J, Scherer G, Pfeifer D.

Genomics. 2001 Nov;78(1-2):73-82.

PMID:
11707075
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
9002675
[PubMed - indexed for MEDLINE]
Free Article
18.

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 3;87(4):349-53.

PMID:
10588843
[PubMed - indexed for MEDLINE]
19.

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 15;12(12):1439-47.

PMID:
12783851
[PubMed - indexed for MEDLINE]
Free Article
20.

Genetic study of SOX9 in a case of campomelic dysplasia.

Giordano J, Prior HM, Bamforth JS, Walter MA.

Am J Med Genet. 2001 Jan 15;98(2):176-81.

PMID:
11223854
[PubMed - indexed for MEDLINE]

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