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Page 1
Disorders of sex development (DSDs): an update.
Ostrer H. Ostrer H. J Clin Endocrinol Metab. 2014 May;99(5):1503-9. doi: 10.1210/jc.2013-3690. Epub 2014 Apr 23. J Clin Endocrinol Metab. 2014. PMID: 24758178 Review.
Mendelian diseases among Roman Jews: implications for the origins of disease alleles.
Oddoux C, Guillen-Navarro E, Ditivoli C, Dicave E, Cilio MR, Clayton CM, Nelson H, Sarafoglou K, McCain N, Peretz H, Seligsohn U, Luzzatto L, Nafa K, Nardi M, Karpatkin M, Aksentijevich I, Kastner D, Axelrod F, Ostrer H. Oddoux C, et al. Among authors: ostrer h. J Clin Endocrinol Metab. 1999 Dec;84(12):4405-9. doi: 10.1210/jcem.84.12.6268. J Clin Endocrinol Metab. 1999. PMID: 10599695 Review.
Clinical review 111: familial sex reversal: a review.
Sarafoglou K, Ostrer H. Sarafoglou K, et al. Among authors: ostrer h. J Clin Endocrinol Metab. 2000 Feb;85(2):483-93. doi: 10.1210/jcem.85.2.6418. J Clin Endocrinol Metab. 2000. PMID: 10690846 Review. No abstract available.
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H. Pearlman A, et al. Among authors: ostrer h. Am J Hum Genet. 2010 Dec 10;87(6):898-904. doi: 10.1016/j.ajhg.2010.11.003. Am J Hum Genet. 2010. PMID: 21129722 Free PMC article.
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.
Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A. Kerns SL, et al. Among authors: ostrer h. J Clin Endocrinol Metab. 2014 Oct;99(10):E2117-22. doi: 10.1210/jc.2014-1949. Epub 2014 Jul 24. J Clin Endocrinol Metab. 2014. PMID: 25057881 Free PMC article.
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.
Granados A, Alaniz VI, Mohnach L, Barseghyan H, Vilain E, Ostrer H, Quint EH, Chen M, Keegan CE. Granados A, et al. Among authors: ostrer h. Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):253-259. doi: 10.1002/ajmg.c.31559. Epub 2017 May 15. Am J Med Genet C Semin Med Genet. 2017. PMID: 28504475 Free PMC article.
195 results