Scherer G - Search Results

1

Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.

Georg I, Bagheri-Fam S, Knower KC, Wieacker P, Scherer G, Harley VR. Georg I, et al. Among authors: scherer g. Sex Dev. 2010;4(6):321-5. doi: 10.1159/000320142. Epub 2010 Sep 14. Sex Dev. 2010. PMID: 20838034

2

FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR. Bagheri-Fam S, et al. Among authors: scherer g. Hum Mol Genet. 2015 Dec 1;24(23):6699-710. doi: 10.1093/hmg/ddv374. Epub 2015 Sep 11. Hum Mol Genet. 2015. PMID: 26362256 Free PMC article.

3

Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.

Rehkämper J, Tewes AC, Horvath J, Scherer G, Wieacker P, Ledig S. Rehkämper J, et al. Among authors: scherer g. Sex Dev. 2017;11(5-6):248-253. doi: 10.1159/000484915. Epub 2017 Dec 1. Sex Dev. 2017. PMID: 29190620

4

Homozygous inactivation of Sox9 causes complete XY sex reversal in mice.

Barrionuevo F, Bagheri-Fam S, Klattig J, Kist R, Taketo MM, Englert C, Scherer G. Barrionuevo F, et al. Among authors: scherer g. Biol Reprod. 2006 Jan;74(1):195-201. doi: 10.1095/biolreprod.105.045930. Epub 2005 Oct 5. Biol Reprod. 2006. PMID: 16207837

5

Loss of Fgfr2 leads to partial XY sex reversal.

Bagheri-Fam S, Sim H, Bernard P, Jayakody I, Taketo MM, Scherer G, Harley VR. Bagheri-Fam S, et al. Among authors: scherer g. Dev Biol. 2008 Feb 1;314(1):71-83. doi: 10.1016/j.ydbio.2007.11.010. Epub 2007 Nov 19. Dev Biol. 2008. PMID: 18155190 Free article.

6

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. Among authors: scherer g. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083

7

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. Bagheri-Fam S, et al. Among authors: scherer g. Genomics. 2001 Nov;78(1-2):73-82. doi: 10.1006/geno.2001.6648. Genomics. 2001. PMID: 11707075

8

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.

Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, Kuechler A, Wieacker P. Ledig S, et al. Among authors: scherer g. Hum Reprod. 2010 Oct;25(10):2637-46. doi: 10.1093/humrep/deq167. Epub 2010 Aug 4. Hum Reprod. 2010. PMID: 20685758

9

A familial mutation in the testis-determining gene SRY shared by both sexes.

Jäger RJ, Harley VR, Pfeiffer RA, Goodfellow PN, Scherer G. Jäger RJ, et al. Among authors: scherer g. Hum Genet. 1992 Dec;90(4):350-5. doi: 10.1007/BF00220457. Hum Genet. 1992. PMID: 1483689

10

Sox9 and Sox8 are required for basal lamina integrity of testis cords and for suppression of FOXL2 during embryonic testis development in mice.

Georg I, Barrionuevo F, Wiech T, Scherer G. Georg I, et al. Among authors: scherer g. Biol Reprod. 2012 Oct 25;87(4):99. doi: 10.1095/biolreprod.112.101907. Print 2012 Oct. Biol Reprod. 2012. PMID: 22837482

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