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Items: 11

1.

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development.

White S, Hewitt J, Turbitt E, van der Zwan Y, Hersmus R, Drop S, Koopman P, Harley V, Cools M, Looijenga L, Sinclair A.

Eur J Hum Genet. 2012 Mar;20(3):348-51. doi: 10.1038/ejhg.2011.204. Epub 2011 Nov 9.

2.

Understanding the genetic aetiology in patients with XY DSD.

Ahmed SF, Bashamboo A, Lucas-Herald A, McElreavey K.

Br Med Bull. 2013;106:67-89. doi: 10.1093/bmb/ldt008. Epub 2013 Mar 25. Review.

PMID:
23529942
3.

Mammalian sex determination—insights from humans and mice.

Eggers S, Sinclair A.

Chromosome Res. 2012 Jan;20(1):215-38. doi: 10.1007/s10577-012-9274-3. Review.

4.

WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.

Dai YL, Fu JF, Hong F, Xu S, Shen Z.

Acta Paediatr. 2011 Jul;100(7):e39-42. doi: 10.1111/j.1651-2227.2011.02167.x. Epub 2011 Feb 14. Review.

PMID:
21314844
5.

Review and management of 46,XY disorders of sex development.

Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP.

J Pediatr Urol. 2013 Jun;9(3):368-79. doi: 10.1016/j.jpurol.2012.12.002. Epub 2012 Dec 29. Review.

PMID:
23276787
6.

Consanguinity and disorders of sex development.

Bashamboo A, McElreavey K.

Hum Hered. 2014;77(1-4):108-17. doi: 10.1159/000360763. Epub 2014 Jul 29. Review.

PMID:
25060274
7.

Tumor risk in disorders of sex development (DSD).

Looijenga LH, Hersmus R, Oosterhuis JW, Cools M, Drop SL, Wolffenbuttel KP.

Best Pract Res Clin Endocrinol Metab. 2007 Sep;21(3):480-95. Review.

PMID:
17875493
8.

[Children born with ambiguous genitalia].

Diseth TH.

Tidsskr Nor Laegeforen. 2008 Feb 28;128(5):576-80. Review. Norwegian.

9.

A model of delivering multi-disciplinary care to people with 46 XY DSD.

Palmer BW, Wisniewski AB, Schaeffer TL, Mallappa A, Tryggestad JB, Krishnan S, Chalmers LJ, Copeland K, Chernausek SD, Reiner WG, Kropp BP.

J Pediatr Urol. 2012 Feb;8(1):7-16. doi: 10.1016/j.jpurol.2011.08.013. Epub 2011 Nov 9. Review.

PMID:
22078657
10.

DSD due to 5α-reductase 2 deficiency - from diagnosis to long term outcome.

Costa EM, Domenice S, Sircili MH, Inacio M, Mendonca BB.

Semin Reprod Med. 2012 Oct;30(5):427-31. doi: 10.1055/s-0032-1324727. Epub 2012 Oct 8. Review.

PMID:
23044880
11.

New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD).

Hersmus R, de Leeuw BH, Wolffenbuttel KP, Drop SL, Oosterhuis JW, Cools M, Looijenga LH.

Mol Cell Endocrinol. 2008 Sep 10;291(1-2):1-10. doi: 10.1016/j.mce.2008.02.028. Epub 2008 Mar 4. Review.

PMID:
18403106

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