Journals / Journal of Clinical Research in Pediatric Endocrinology / 2016 / Cilt: 8 - Sayı: 1

Use of Next Generation Sequencing in Clinical Practice: The Example of Disorders/Differences of Sex Development

Pages
5–5
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
🔖

Cite This Article

VİLAİN, E. (2016). Use of Next Generation Sequencing in Clinical Practice: The Example of Disorders/Differences of Sex Development. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 8 - Sayı: 1, 5–5. https://ajindex.com/articles/215522

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (6)

  1. 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. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006;118:488-500.
  2. Barseghyan H, Délot E, Vilain E. New genomic technologies: an aid for diagnosis of disorders of sex development. Horm Metab Res 2015;47:312-320. Epub 2015 May 13 Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol 2014;10:603-615. Epub 2014 Aug 5 Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC; Endocrine Society. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010;95:4133-4160.
  3. Sandberg DE, Mazur T. A Noncategorical Approach to the Psychosocial Care of Persons with DSD and Their Families. In: Kreukels BPC, Steensma TD, de Vries ALC (eds). Gender Dysphoria and Disorders of Sex Development, 1st ed. New York, Springer, 2014:93-114.
  4. Abacı A, Çatlı G, Berberoğlu M. Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development. J Pediatr Endocrinol Metab 2015;28:1019- 1027. Guercio G, Rey RA. Fertility Issues in the Management of Patients with Disorders of Sex Development. In: Hiort O, Ahmed SF (eds). Understanding Differences and Disorders of Sex Development (DSD). Basel, Karger, 2014:87-98.
  5. Albrecht KH, Eicher EM. DNA sequence analysis of Sry alleles (subgenus Mus) implicates misregulation as the cause of C57BL/6J-Y(POS) sex reversal and defines the SRY functional unit. Genetics 1997;147:1267-1277.
  6. Ohnesorg T, Vilain E, Sinclair AH. The genetics of disorders of sex development in humans. Sex Dev 2014;8:262-272. Epub 2014 Jan 31 Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S,Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab 2015;100:333-344. Epub 2014 Nov 10