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Author Correction: 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: bashamboo a. Nat Commun. 2023 Jun 15;14(1):3566. doi: 10.1038/s41467-023-39372-x. Nat Commun. 2023. PMID: 37322043 Free PMC article. No abstract available.
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Rjiba K, Mougou-Zerelli S, Hamida IH, Saad G, Khadija B, Jelloul A, Slimani W, Hasni Y, Dimassi S, Khelifa HB, Sallem A, Kammoun M, Abdallah HH, Gribaa M, Bignon-Topalovic J, Chelly S, Khairi H, Bibi M, Kacem M, Saad A, Bashamboo A, McElreavey K. Rjiba K, et al. Among authors: bashamboo a. Reprod Biol Endocrinol. 2023 Jan 11;21(1):2. doi: 10.1186/s12958-022-01045-7. Reprod Biol Endocrinol. 2023. PMID: 36631813 Free PMC article.
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: bashamboo a. 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: bashamboo a. 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. 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. 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.
99 results