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Items: 1 to 20 of 105

1.

Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia.

Piper K, Ball SG, Keeling JW, Mansoor S, Wilson DI, Hanley NA.

Mech Dev. 2002 Aug;116(1-2):223-6.

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.

3.

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
4.

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
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.

6.

Campomelic syndrome and deletion of SOX9.

Olney PN, Kean LS, Graham D, Elsas LJ, May KM.

Am J Med Genet. 1999 May 7;84(1):20-4.

PMID:
10213041
7.

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.

PMID:
15806394
8.

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
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 15;143A(8):866-70.

PMID:
17352389
10.

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
11.

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.

12.

Conditional inactivation of Sox9: a mouse model for campomelic dysplasia.

Kist R, Schrewe H, Balling R, Scherer G.

Genesis. 2002 Feb;32(2):121-3. No abstract available.

PMID:
11857796
13.

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.

PMID:
21614988
14.

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
15.

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.

16.

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
17.

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. doi: 10.1016/j.urology.2011.07.1402.

PMID:
21962881
18.
19.

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.

Bernard P, Tang P, Liu S, Dewing P, Harley VR, Vilain E.

Hum Mol Genet. 2003 Jul 15;12(14):1755-65.

20.

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.

PMID:
11446414
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