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Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.
Nagara M, Papagregoriou G, Ben Abdallah R, Landoulsi Z, Bouyacoub Y, Elouej S, Kefi R, Pippucci T, Voskarides K, Bashamboo A, McElreavey K, Hachicha M, Romeo G, Seri M, Deltas C, Abdelhak S. Nagara M, et al. Among authors: mcelreavey k. Eur J Med Genet. 2018 Jan;61(1):1-7. doi: 10.1016/j.ejmg.2017.10.002. Epub 2017 Oct 9. Eur J Med Genet. 2018. PMID: 29024829
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A. Lourenço D, et al. Among authors: mcelreavey k. N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25. N Engl J Med. 2009. PMID: 19246354 Free PMC article.
[NR5A1 and ovarian failure].
Bashamboo A, Ravel C, Brauner R, McElreavey K. Bashamboo A, et al. Among authors: mcelreavey k. Med Sci (Paris). 2009 Oct;25(10):809-13. doi: 10.1051/medsci/20092510809. Med Sci (Paris). 2009. PMID: 19849982 Free article. Review. French.
NR5A1/SF-1 and development and function of the ovary.
Bashamboo A, McElreavey K. Bashamboo A, et al. Among authors: mcelreavey k. Ann Endocrinol (Paris). 2010 May;71(3):177-82. doi: 10.1016/j.ando.2010.02.013. Epub 2010 Apr 14. Ann Endocrinol (Paris). 2010. PMID: 20394914 Review.
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K. Bashamboo A, et al. Among authors: mcelreavey k. Am J Hum Genet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. Am J Hum Genet. 2010. PMID: 20887963 Free PMC article.
Loss-of-function mutation in GATA4 causes anomalies of human testicular development.
Lourenço D, Brauner R, Rybczynska M, Nihoul-Fékété C, McElreavey K, Bashamboo A. Lourenço D, et al. Among authors: mcelreavey k. Proc Natl Acad Sci U S A. 2011 Jan 25;108(4):1597-602. doi: 10.1073/pnas.1010257108. Epub 2011 Jan 10. Proc Natl Acad Sci U S A. 2011. PMID: 21220346 Free PMC article.
243 results