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STAG3 is a strong candidate gene for male infertility.
Llano E, Gomez-H L, García-Tuñón I, Sánchez-Martín M, Caburet S, Barbero JL, Schimenti JC, Veitia RA, Pendas AM. Llano E, et al. Among authors: caburet s. Hum Mol Genet. 2014 Jul 1;23(13):3421-31. doi: 10.1093/hmg/ddu051. Epub 2014 Mar 7. Hum Mol Genet. 2014. PMID: 24608227 Free article.
Mutant cohesin in premature ovarian failure.
Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E. Caburet S, et al. N Engl J Med. 2014 Mar 6;370(10):943-949. doi: 10.1056/NEJMoa1309635. N Engl J Med. 2014. PMID: 24597867 Free PMC article.
Mechanisms of Mendelian dominance.
Veitia RA, Caburet S, Birchler JA. Veitia RA, et al. Among authors: caburet s. Clin Genet. 2018 Mar;93(3):419-428. doi: 10.1111/cge.13107. Epub 2017 Oct 26. Clin Genet. 2018. PMID: 28755412 Review.
A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1.
Felipe-Medina N, Caburet S, Sánchez-Sáez F, Condezo YB, de Rooij DG, Gómez-H L, Garcia-Valiente R, Todeschini AL, Duque P, Sánchez-Martin MA, Shalev SA, Llano E, Veitia RA, Pendás AM. Felipe-Medina N, et al. Among authors: caburet s. Elife. 2020 Aug 26;9:e56996. doi: 10.7554/eLife.56996. Elife. 2020. PMID: 32845237 Free PMC article.
38 results