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Items: 1 to 20 of 477

1.

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.

2.

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
3.

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.

4.
5.

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
7.

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM.

BMC Med Genet. 2013 May 7;14:50. doi: 10.1186/1471-2350-14-50.

8.

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.

Lecointre C, Pichon O, Hamel A, Heloury Y, Michel-Calemard L, Morel Y, David A, Le Caignec C.

Am J Med Genet A. 2009 Jun;149A(6):1183-9. doi: 10.1002/ajmg.a.32830.

PMID:
19449405
9.

Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.

Jakubiczka S, Schröder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P.

Sex Dev. 2010;4(3):143-9. doi: 10.1159/000302403. Epub 2010 May 4.

PMID:
20453475
10.

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
11.

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway.

Bien-Willner GA, Stankiewicz P, Lupski JR.

Hum Mol Genet. 2007 May 15;16(10):1143-56. Epub 2007 Apr 4.

12.
13.

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.

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. Epub 2005 Apr 2.

PMID:
15806394
15.

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
16.

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
17.

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
18.

De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development.

Refai O, Friedman A, Terry L, Jewett T, Pearlman A, Perle MA, Ostrer H.

Am J Med Genet A. 2010 Feb;152A(2):422-6. doi: 10.1002/ajmg.a.33201.

PMID:
20082466
19.

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

Jakobsen LP, Ullmann R, Christensen SB, Jensen KE, Mølsted K, Henriksen KF, Hansen C, Knudsen MA, Larsen LA, Tommerup N, Tümer Z.

J Med Genet. 2007 Jun;44(6):381-6.

20.

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.

Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held KR, Reinwein H, et al.

Nat Genet. 1993 Jun;4(2):170-4.

PMID:
8348155
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