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Results: 1 to 20 of 233

Similar articles for PubMed (Select 10588843)

1.

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
2.

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
3.

A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.

Flejter WL, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S.

Am J Hum Genet. 1998 Sep;63(3):794-802.

4.

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
5.

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
6.

A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse.

Bishop CE, Whitworth DJ, Qin Y, Agoulnik AI, Agoulnik IU, Harrison WR, Behringer RR, Overbeek PA.

Nat Genet. 2000 Dec;26(4):490-4.

PMID:
11101852
8.

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
9.

Influence on spatiotemporal patterns of a male-specific Sox9 activation by ectopic Sry expression during early phases of testis differentiation in mice.

Kidokoro T, Matoba S, Hiramatsu R, Fujisawa M, Kanai-Azuma M, Taya C, Kurohmaru M, Kawakami H, Hayashi Y, Kanai Y, Yonekawa H.

Dev Biol. 2005 Feb 15;278(2):511-25.

10.

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. Epub 2005 Apr 2.

PMID:
15806394
11.

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
12.

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

Meyer J, S├╝dbeck 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.

13.

Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.

Temel SG, Gulten T, Yakut T, Saglam H, Kilic N, Bausch E, Jin WJ, Leipoldt M, Scherer G.

Sex Dev. 2007;1(1):24-34. doi: 10.1159/000096236.

PMID:
18391513
14.

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
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.

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.

17.

Exclusion of candidate genes for canine SRY-negative XX sex reversal.

Kothapalli K, Kirkness E, Pujar S, Van Wormer R, Meyers-Wallen VN.

J Hered. 2005;96(7):759-63. Epub 2005 Nov 2.

18.

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
19.

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.

PMID:
17185244
20.

46,XX sex reversal with partial duplication of chromosome arm 22q.

Seeherunvong T, Perera EM, Bao Y, Benke PJ, Benigno A, Donahue RP, Berkovitz GD.

Am J Med Genet A. 2004 Jun 1;127A(2):149-51.

PMID:
15108202
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