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Items: 1 to 20 of 100

1.

Genetics of Disorders of Sex Development: The DSD-TRN Experience.

Délot EC, Papp JC; DSD-TRN Genetics Workgroup, Sandberg DE, Vilain E.

Endocrinol Metab Clin North Am. 2017 Jun;46(2):519-537. doi: 10.1016/j.ecl.2017.01.015. Epub 2017 Mar 28. Review.

2.

Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSD-Translational research network.

Sandberg DE, Gardner M, Callens N, Mazur T; DSD-TRN Psychosocial Workgroup, the DSD-TRN Advocacy Advisory Network, and Accord Alliance.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):279-292. doi: 10.1002/ajmg.c.31561. Epub 2017 Jun 2.

3.

Disorders of Sex Development (DSD): Networking and Standardization Considerations.

Sandberg DE, Callens N, Wisniewski AB.

Horm Metab Res. 2015 May;47(5):387-93. doi: 10.1055/s-0035-1548936. Epub 2015 May 13. Review.

PMID:
25970713
4.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH.

Genome Biol. 2016 Nov 29;17(1):243.

5.

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
6.

Recent findings on the genetics of disorders of sex development.

Kremen J, Chan YM, Swartz JM.

Curr Opin Urol. 2017 Jan;27(1):1-6. Review.

7.

New technologies to uncover the molecular basis of disorders of sex development.

Barseghyan H, Délot EC, Vilain E.

Mol Cell Endocrinol. 2018 Jun 15;468:60-69. doi: 10.1016/j.mce.2018.04.003. Epub 2018 Apr 13. Review.

PMID:
29655603
8.

Novel associations in disorders of sex development: findings from the I-DSD Registry.

Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S, Cools M, Darendeliler F, Drop S, Ellaithi M, Guran T, Hiort O, Holterhus PM, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Ahmed SF.

J Clin Endocrinol Metab. 2014 Feb;99(2):E348-55. doi: 10.1210/jc.2013-2918. Epub 2013 Dec 3.

9.

Current models of care for disorders of sex development - results from an International survey of specialist centres.

Kyriakou A, Dessens A, Bryce J, Iotova V, Juul A, Krawczynski M, Nordenskjöld A, Rozas M, Sanders C, Hiort O, Ahmed SF.

Orphanet J Rare Dis. 2016 Nov 21;11(1):155.

10.

New technologies for the identification of novel genetic markers of disorders of sex development (DSD).

Bashamboo A, Ledig S, Wieacker P, Achermann JC, McElreavey K.

Sex Dev. 2010 Sep;4(4-5):213-24. doi: 10.1159/000314917. Epub 2010 Jul 3. Review. Erratum in: Sex Dev. 2010 Sep;4(4-5):224. Achermann, J [corrected to Achermann, J C].

11.

The current state of diagnostic genetics for conditions affecting sex development.

Alhomaidah D, McGowan R, Ahmed SF.

Clin Genet. 2017 Feb;91(2):157-162. doi: 10.1111/cge.12912. Review.

PMID:
28127758
12.

Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study.

Słowikowska-Hilczer J, Hirschberg AL, Claahsen-van der Grinten H, Reisch N, Bouvattier C, Thyen U, Cohen Kettenis P, Roehle R, Köhler B, Nordenström A; dsd-LIFE Group.

Fertil Steril. 2017 Nov;108(5):822-831. doi: 10.1016/j.fertnstert.2017.08.013. Epub 2017 Sep 15.

PMID:
28923284
13.

Update on disorders of sex development.

Houk CP, Lee PA.

Curr Opin Endocrinol Diabetes Obes. 2012 Feb;19(1):28-32. doi: 10.1097/MED.0b013e32834edacb. Review.

PMID:
22157406
14.

Emerging issues in disorders/differences of sex development (DSD).

Adam MP, Vilain E.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):249-252. doi: 10.1002/ajmg.c.31564. Epub 2017 Jun 3.

PMID:
28577349
15.

Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.

Dong Y, Yi Y, Yao H, Yang Z, Hu H, Liu J, Gao C, Zhang M, Zhou L, Asan, Yi X, Liang Z.

BMC Med Genet. 2016 Mar 15;17:23. doi: 10.1186/s12881-016-0286-2.

16.

Disorders of sex development (DSD): Clinical service delivery in the United States.

Rolston AM, Gardner M, van Leeuwen K, Mohnach L, Keegan C, Délot E, Vilain E, Sandberg DE; members of the DSD-TRN Advocacy; Advisory Network Accord Alliance.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):268-278. doi: 10.1002/ajmg.c.31558. Epub 2017 May 30.

17.

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.

Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT, Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL.

Clin Endocrinol (Oxf). 2016 Aug;85(2):247-57. doi: 10.1111/cen.13051. Epub 2016 Apr 4.

PMID:
26935236
18.

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.

Kim JH, Kang E, Heo SH, Kim GH, Jang JH, Cho EH, Lee BH, Yoo HW, Choi JH.

Mol Cell Endocrinol. 2017 Mar 15;444:19-25. doi: 10.1016/j.mce.2017.01.037. Epub 2017 Jan 24.

PMID:
28130116
19.

Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development.

Hiort O, Wünsch L, Cools M, Looijenga L, Cuckow P.

J Pediatr Urol. 2012 Dec;8(6):624-8. doi: 10.1016/j.jpurol.2012.09.004. Epub 2012 Oct 9.

PMID:
23059375
20.

The Role of Copy Number Variants in Disorders of Sex Development.

Croft B, Ohnesorg T, Sinclair AH.

Sex Dev. 2018;12(1-3):19-29. doi: 10.1159/000481896. Epub 2017 Nov 17. Review.

PMID:
29145200

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