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Items: 1 to 20 of 49

1.

New genomic technologies: an aid for diagnosis of disorders of sex development.

Barseghyan H, Délot E, Vilain E.

Horm Metab Res. 2015 May;47(5):312-20. doi: 10.1055/s-0035-1548831. Epub 2015 May 13. Review.

PMID:
25970709
2.

BMP-Smad4 signaling is required for precartilaginous mesenchymal condensation independent of Sox9 in the mouse.

Lim J, Tu X, Choi K, Akiyama H, Mishina Y, Long F.

Dev Biol. 2015 Apr 1;400(1):132-8. doi: 10.1016/j.ydbio.2015.01.022. Epub 2015 Jan 29.

3.

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.

J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20.

PMID:
25604083
4.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O.

Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5.

5.

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.

Lee GM, Ko JM, Shin CH, Yang SW.

Ann Pediatr Endocrinol Metab. 2014 Jun;19(2):108-12. doi: 10.6065/apem.2014.19.2.108. Epub 2014 Jun 30.

6.

A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.

Xiao B, Ji X, Xing Y, Chen YW, Tao J.

Eur J Med Genet. 2013 Dec;56(12):695-8. doi: 10.1016/j.ejmg.2013.10.001. Epub 2013 Oct 18.

PMID:
24140641
7.

Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.

Chiang HS, Wu YN, Wu CC, Hwang JL.

J Formos Med Assoc. 2013 Feb;112(2):72-8. doi: 10.1016/j.jfma.2012.02.009. Epub 2012 Aug 30.

8.

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.

Moalem S, Babul-Hirji R, Stavropolous DJ, Wherrett D, Bägli DJ, Thomas P, Chitayat D.

Am J Med Genet A. 2012 Jul;158A(7):1759-64. doi: 10.1002/ajmg.a.35390. Epub 2012 Jun 7.

PMID:
22678921
9.

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.

Seeherunvong T, Ukarapong S, McElreavey K, Berkovitz GD, Perera EM.

J Pediatr Endocrinol Metab. 2012;25(1-2):121-3.

PMID:
22570960
10.

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.

Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, Molven A, Dijoud F, Munnich A, Faivre L, Amiel J, Harley V, Houge G, Morel Y, Lyonnet S.

J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2.

PMID:
22051515
11.

XX males SRY negative: a confirmed cause of infertility.

Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, Zuffardi O.

J Med Genet. 2011 Oct;48(10):710-2. doi: 10.1136/jmedgenet-2011-100036. Epub 2011 Jun 7.

12.

A SOX9 duplication and familial 46,XX developmental testicular disorder.

Cox JJ, Willatt L, Homfray T, Woods CG.

N Engl J Med. 2011 Jan 6;364(1):91-3. doi: 10.1056/NEJMc1010311. No abstract available.

13.

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P.

J Clin Invest. 2011 Jan;121(1):328-41. doi: 10.1172/JCI42580. Epub 2010 Dec 22.

14.

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
15.

Consensus statement on management of intersex disorders.

Hughes IA, Houk C, Ahmed SF, Lee PA; Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group.

J Pediatr Urol. 2006 Jun;2(3):148-62. doi: 10.1016/j.jpurol.2006.03.004. Epub 2006 May 23.

PMID:
18947601
16.

Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.

Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, Grammatico B, Remotti D, Saccucci P, Valentini F, Mazzilli MC, Majore S, Grammatico P.

Hum Mutat. 2008 Feb;29(2):220-6.

PMID:
18085567
17.

R-spondin1 is essential in sex determination, skin differentiation and malignancy.

Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, Guerra L, Schedl A, Camerino G.

Nat Genet. 2006 Nov;38(11):1304-9. Epub 2006 Oct 15.

PMID:
17041600
18.

Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.

Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.

Pediatrics. 2006 Aug;118(2):e488-500. No abstract available.

PMID:
16882788
19.

Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature.

Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreavey K, New MI.

J Pediatr Endocrinol Metab. 2005 Aug;18(8):739-48.

PMID:
16200839
20.

Testosterone substitution with a new transdermal, hydroalcoholic gel applied to scrotal or non-scrotal skin: a multicentre trial.

Kühnert B, Byrne M, Simoni M, Köpcke W, Gerss J, Lemmnitz G, Nieschlag E.

Eur J Endocrinol. 2005 Aug;153(2):317-26.

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