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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía J, Ochoa JP, Palomino-Doza J, Domínguez F, Díez-López C, Akhtar M, Ramiro-León S, Clemente MM, Pérez-Cejas A, Robledo M, Gómez-Díaz I, Peña-Peña ML, Climent V, Salmerón-Martínez F, Hernández C, García-Granja PE, Mogollón MV, Cárdenas-Reyes I, Cicerchia M, García-Giustiniani D, Lamounier A Jr, Gil-Fournier B, Díaz-Flores F, Salguero R, Santomé L, Syrris P, Olivé M, García-Pavía P, Ortiz-Genga M, Elliott PM, Monserrat L; GENESCOPIC Research Group. Salazar-Mendiguchía J, et al. Among authors: santome l. Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25. Heart. 2020. PMID: 32451364 Free PMC article.
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.
Torrado M, Maneiro E, Lamounier Junior A, Fernández-Burriel M, Sánchez Giralt S, Martínez-Carapeto A, Cazón L, Santiago E, Ochoa JP, McKenna WJ, Santomé L, Monserrat L. Torrado M, et al. Among authors: santome l. Sci Rep. 2022 May 4;12(1):7284. doi: 10.1038/s41598-022-11159-y. Sci Rep. 2022. PMID: 35508642 Free PMC article.
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Montalván-Suárez M, Esperón-Moldes US, Rodríguez-Pazos L, Ordóñez-Ugalde A, Moscoso F, Ugalde-Noritz N, Santomé L, Fachal L, Tettamanti-Miranda D, Ruiz JC, Ginarte M, Vega A. Montalván-Suárez M, et al. Among authors: santome l. Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27. Mol Genet Genomic Med. 2019. PMID: 30916489 Free PMC article.
Real-world data with afatinib in Spanish patients with treatment-naïve non-small-cell lung cancer harboring exon 19 deletions in epidermal growth factor receptor (Del19 EGFR): Clinical experience of the Galician Lung Cancer Group.
Agraso S, Lázaro M, Firvida XL, Santomé L, Fernández N, Azpitarte C, Leon L, Garcia C, Hudobro G, Areses MC, Campos B, Quiroga N, García J, Casal J. Agraso S, et al. Among authors: santome l. Cancer Treat Res Commun. 2022;33:100646. doi: 10.1016/j.ctarc.2022.100646. Epub 2022 Oct 4. Cancer Treat Res Commun. 2022. PMID: 36335799 Free article.
Rethinking prognostic factors in locally advanced or metastatic urothelial carcinoma in the immune checkpoint blockade era: a multicenter retrospective study.
Ruiz-Bañobre J, Molina-Díaz A, Fernández-Calvo O, Fernández-Núñez N, Medina-Colmenero A, Santomé L, Lázaro-Quintela M, Mateos-González M, García-Cid N, López-López R, Vázquez S, Anido-Herranz U. Ruiz-Bañobre J, et al. Among authors: santome l. ESMO Open. 2021 Apr;6(2):100090. doi: 10.1016/j.esmoop.2021.100090. Epub 2021 Mar 16. ESMO Open. 2021. PMID: 33740735 Free PMC article.
Evaluation of the lung immune prognostic index in advanced non-small cell lung cancer patients under nivolumab monotherapy.
Ruiz-Bañobre J, Areses-Manrique MC, Mosquera-Martínez J, Cortegoso A, Afonso-Afonso FJ, de Dios-Álvarez N, Fernández-Núñez N, Azpitarte-Raposeiras C, Amenedo M, Santomé L, Fírvida-Pérez JL, García-Campelo R, García-González J, Casal-Rubio J, Vázquez S. Ruiz-Bañobre J, et al. Among authors: santome l. Transl Lung Cancer Res. 2019 Dec;8(6):1078-1085. doi: 10.21037/tlcr.2019.11.07. Transl Lung Cancer Res. 2019. PMID: 32010585 Free PMC article.
18 results