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Page 1
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
García-Molina E, Lacunza J, Ruiz-Espejo F, Sabater M, García-Alberola A, Gimeno JR, Cañizares F, García A, Martínez P, Valdés M, Tovar I. García-Molina E, et al. Clin Genet. 2013 Jun;83(6):530-8. doi: 10.1111/cge.12017. Epub 2012 Oct 16. Clin Genet. 2013. PMID: 22984773
An R1632C variant in the SCN5A gene causing Brugada syndrome.
García-Molina E, Sabater-Molina M, Muñoz C, Ruiz-Espejo F, Gimeno JR. García-Molina E, et al. Among authors: ruiz espejo f. Mol Med Rep. 2016 Jun;13(6):4677-80. doi: 10.3892/mmr.2016.5100. Epub 2016 Apr 11. Mol Med Rep. 2016. PMID: 27082542
New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer.
Castillo-Guardiola V, Sarabia-Meseguer MD, Marín-Vera M, Sánchez-Bermúdez AI, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F. Castillo-Guardiola V, et al. Among authors: ruiz espejo f. Cancer Genet. 2018 Dec;228-229:1-4. doi: 10.1016/j.cancergen.2018.06.002. Epub 2018 Jun 23. Cancer Genet. 2018. PMID: 30553462
Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
Sánchez-Bermúdez AI, Sarabia-Meseguer MD, García-Aliaga Á, Marín-Vera M, Macías-Cerrolaza JA, Henaréjos PS, Guardiola-Castillo V, Peña FA, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F. Sánchez-Bermúdez AI, et al. Among authors: ruiz espejo f. Eur J Med Genet. 2018 Jun;61(6):355-361. doi: 10.1016/j.ejmg.2018.01.015. Epub 2018 Feb 2. Eur J Med Genet. 2018. PMID: 29409816
Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.
Castillo-Guardiola V, Rosado-Jiménez L, Sarabia-Meseguer MD, Marín-Vera M, Macías-Cerrolaza JA, García-Hernández R, Zafra-Poves M, Sánchez-Henarejos P, Moreno-Locubiche MÁ, Cuevas-Tortosa E, Arnaldos-Carrillo M, Ayala de la Peña F, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F. Castillo-Guardiola V, et al. Among authors: ruiz espejo f. Eur J Med Genet. 2022 Apr;65(4):104468. doi: 10.1016/j.ejmg.2022.104468. Epub 2022 Mar 1. Eur J Med Genet. 2022. PMID: 35245693
29 results