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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: mcelreavey k. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
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.
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.
Genetic disorders of sex differentiation.
McElreavey K, Bashamboo A. McElreavey K, et al. Adv Exp Med Biol. 2011;707:91-9. doi: 10.1007/978-1-4419-8002-1_20. Adv Exp Med Biol. 2011. PMID: 21691962 No abstract available.
Clinical, biological and genetic analysis of anorchia in 26 boys.
Brauner R, Neve M, Allali S, Trivin C, Lottmann H, Bashamboo A, McElreavey K. Brauner R, et al. Among authors: mcelreavey k. PLoS One. 2011;6(8):e23292. doi: 10.1371/journal.pone.0023292. Epub 2011 Aug 10. PLoS One. 2011. PMID: 21853106 Free PMC article.
241 results