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102 results

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Page 1
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.
Steel D, Salpietro V, Phadke R, Pitt M, Gentile G, Massoud A, Batten L, Bashamboo A, Mcelreavey K, Saggar A, Kinali M. Steel D, et al. Among authors: bashamboo a. J Genet. 2015 Dec;94(4):755-8. doi: 10.1007/s12041-015-0578-x. J Genet. 2015. PMID: 26690532 Free article. No abstract available.
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.
In vitro cellular reprogramming to model gonad development and its disorders.
Gonen N, Eozenou C, Mitter R, Elzaiat M, Stévant I, Aviram R, Bernardo AS, Chervova A, Wankanit S, Frachon E, Commère PH, Brailly-Tabard S, Valon L, Barrio Cano L, Levayer R, Mazen I, Gobaa S, Smith JC, McElreavey K, Lovell-Badge R, Bashamboo A. Gonen N, et al. Among authors: bashamboo a. Sci Adv. 2023 Jan 4;9(1):eabn9793. doi: 10.1126/sciadv.abn9793. Epub 2023 Jan 4. Sci Adv. 2023. PMID: 36598988 Free PMC article.
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.
[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.
Genetic disorders of sex differentiation.
McElreavey K, Bashamboo A. McElreavey K, et al. Among authors: bashamboo a. 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.
102 results