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Real world evidence of calcifediol or vitamin D prescription and mortality rate of COVID-19 in a retrospective cohort of hospitalized Andalusian patients.

Submitted by rgarcia on Wed, 12/15/2021 - 09:47
Loucera C, Peña-Chilet M, Esteban-Medina M, et al. Real world evidence of calcifediol or vitamin D prescription and mortality rate of COVID-19 in a retrospective cohort of hospitalized Andalusian patients. Sci Rep. 2021;11(1):23380. doi:10.1038/s41598-021-02701-5.

De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.

Submitted by jdopazo on Tue, 09/07/2021 - 09:50
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, et al. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Am J Med Genet A. 2021;185(3):877-883. doi:10.1002/ajmg.a.62017.

Nivolumab and sunitinib combination in advanced soft tissue sarcomas: a multicenter, single-arm, phase Ib/II trial.

Submitted by jdopazo on Fri, 11/20/2020 - 10:37
Martin-Broto J, Hindi N, Grignani G, et al. Nivolumab and sunitinib combination in advanced soft tissue sarcomas: a multicenter, single-arm, phase Ib/II trial. J Immunother Cancer. 2020;8(2). doi:10.1136/jitc-2020-001561.

Community Assessment of the Predictability of Cancer Protein and Phosphoprotein Levels from Genomics and Transcriptomics.

Submitted by jdopazo on Sun, 07/26/2020 - 12:01
Yang M, Petralia F, Li Z, et al. Community Assessment of the Predictability of Cancer Protein and Phosphoprotein Levels from Genomics and Transcriptomics. Cell Syst. 2020;11(2):186-195.e9. doi:10.1016/j.cels.2020.06.013.

Mechanistic Models of Signaling Pathways Reveal the Drug Action Mechanisms behind Gender-Specific Gene Expression for Cancer Treatments.

Submitted by jdopazo on Fri, 07/24/2020 - 11:31
Cubuk C, Can FE, Peña-Chilet M, Dopazo J. Mechanistic Models of Signaling Pathways Reveal the Drug Action Mechanisms behind Gender-Specific Gene Expression for Cancer Treatments. Cells. 2020;9(7). doi:10.3390/cells9071579.

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Submitted by rgarcia on Mon, 03/23/2020 - 17:02
Bogliolo M, Pujol R, Aza-Carmona M, et al. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.

Pazopanib for treatment of typical solitary fibrous tumours: a multicentre, single-arm, phase 2 trial.

Submitted by rgarcia on Mon, 03/23/2020 - 14:52
Martin-Broto J, Cruz J, Penel N, et al. Pazopanib for treatment of typical solitary fibrous tumours: a multicentre, single-arm, phase 2 trial. Lancet Oncol. 2020;21(3):456-466. doi:10.1016/S1470-2045(19)30826-5.

Molecular profiling related to poor prognosis in thyroid carcinoma. Combining gene expression data and biological information.

Submitted by iguillen on Thu, 07/04/2019 - 11:55
Montero-Conde C, Martín-Campos JM, Lerma E, et al. Molecular profiling related to poor prognosis in thyroid carcinoma. Combining gene expression data and biological information. Oncogene. 2008;27(11):1554-61. doi:10.1038/sj.onc.1210792.

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Submitted by iguillen on Fri, 06/28/2019 - 13:56
Barragán I, Borrego S, Pieras JIgnacio, et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010;31(11):E1772-800. doi:10.1002/humu.21334.