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Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.
Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, Bisharah M, Pigeon FC, Gourabi H, De Briel D, Brugnon F, Gitlin SA, Grillo JM, Ghaedi K, Deemeh MR, Tanhaei S, Modarres P, Heindryckx B, Benkhalifa M, Nikiforaki D, Oehninger SC, De Sutter P, Muller J, Viville S. Elinati E, et al. Among authors: vanden meerschaut f. Hum Mol Genet. 2012 Aug 15;21(16):3695-702. doi: 10.1093/hmg/dds200. Epub 2012 May 31. Hum Mol Genet. 2012. PMID: 22653751
Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status.
Kuentz P, Vanden Meerschaut F, Elinati E, Nasr-Esfahani MH, Gurgan T, Iqbal N, Carré-Pigeon F, Brugnon F, Gitlin SA, Velez de la Calle J, Kilani Z, De Sutter P, Viville S. Kuentz P, et al. Among authors: vanden meerschaut f. Hum Reprod. 2013 Apr;28(4):1054-61. doi: 10.1093/humrep/det005. Epub 2013 Feb 14. Hum Reprod. 2013. PMID: 23411621
Assisted oocyte activation following ICSI fertilization failure.
Vanden Meerschaut F, Nikiforaki D, Heindryckx B, De Sutter P. Vanden Meerschaut F, et al. Reprod Biomed Online. 2014 May;28(5):560-71. doi: 10.1016/j.rbmo.2014.01.008. Epub 2014 Jan 31. Reprod Biomed Online. 2014. PMID: 24656559 Review.
25 results