Publicaciones sistemas genómicos

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EGFR pathway subgroups in Chilean colorectal cancer patients, detected by mutational and expression profiles, associated to different clinicopathological features.

EGFR pathway subgroups in Chilean colorectal cancer patients, detected by mutational and expression profiles, associated to different clinicopathological features. https://www.ncbi.nlm.nih.gov/pubmed/28936923 Descargar PDF

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MMP9 is decreased in natalizumab-treated MS patients at risk for PML

MMP9 is decreased in natalizumab-treated MS patients at risk for PML http://onlinelibrary.wiley.com/doi/10.1002/ana.24987/full Descargar PDF

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RNAseq based transcriptomics study of SMCs from carotid atherosclerotic plaque: BMP2 and IDs proteins are crucial regulators of plaque stability

RNAseq based transcriptomics study of SMCs from carotid atherosclerotic plaque: BMP2 and IDs proteins are crucial regulators of plaque stability https://www.nature.com/articles/s41598-017-03687-9 Descargar PDF

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Research Articles New protocol based on massive parallel sequencing for aneuploidy screening of preimplantation human embryos

Research Articles New protocol based on massive parallel sequencing for aneuploidy screening of preimplantation human embryos http://www.tandfonline.com/eprint/r2YEG43eVkajkGyJPczX/full Descargar PDF

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Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene https://www.ncbi.nlm.nih.gov/pubmed/27913932

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Diversity in sequences, post-translational modifications and expected pharmacological activities of toxins from four Conus species revealed by the combination of cutting-edge proteomics, transcriptomics and bioinformatics

Diversity in sequences, post-translational modifications and expected pharmacological activities of toxins from four Conus species revealed by the combination of cutting-edge proteomics, transcriptomics and bioinformatics.

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New Altered Non-Fibrillar Collagens in Human Dilated Cardiomyopathy: Role in the Remodeling Process

New Altered Non-Fibrillar Collagens in Human Dilated Cardiomyopathy: Role in the Remodeling Process https://www.ncbi.nlm.nih.gov/pubmed/27936202

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Chromatin remodelling and DNA repair genes are frequently mutated in endometrioid endometrial carcinoma.

Chromatin remodelling and DNA repair genes are frequently mutated in endometrioid endometrial carcinoma. https://www.ncbi.nlm.nih.gov/pubmed/27997699

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Strong down-regulation of glycophorin genes: A host defense mechanism against rotavirus infection

Strong down-regulation of glycophorin genes: A host defense mechanism against rotavirus infection http://www.sciencedirect.com/science/article/pii/S1567134816303343

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Chimerism interpretation with a highly sensitive quantitative PCR method: 6 months median latency before chimerism drop below 0.1%

Chimerism interpretation with a highly sensitive quantitative PCR method: 6 months median latency before chimerism drop below 0.1% Descargar PDF

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Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial. Journal: Breast Cancer Research and Treatment, (), 1-9 . DOI 10.1007/s10549-016-3792-1

Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial. Journal: Breast Cancer Research and Treatment, (), 1-9 . DOI 10.1007/s10549-016-3792-1 [...]

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MicroRNA deregulation in triple negative breast cancer reveals a role of miR-498 in regulating BRCA1 expression

MicroRNA deregulation in triple negative breast cancer reveals a role of miR-498 in regulating BRCA1 expression Descargar PDF

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Exosomes from bulk and stem cells from human prostate cancer have a differential microRNA content that contributes cooperatively over local and pre-metastatic niche

Exosomes from bulk and stem cells from human prostate cancer have a differential microRNA content that contributes cooperatively over local and pre-metastatic niche Descargar PDF

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Alba Mota, Juan Carlos Triviño, Alejandro Rojo-Sebastian, Ángel Martínez-Ramírez, Luis Chiva, Antonio González-Martín, Juan F. Garcia, Pablo Garcia-Sanz and Gema Moreno-Bueno

Intra-tumor heterogeneity in TP53 null High Grade Serous Ovarian Carcinoma progression http://www.biomedcentral.com/1471-2407/15/940

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A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families http://www.nature.com/ncomms/2015/150925/ncomms9383/abs/ncomms9383.html

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Diagnóstico molecular de enfermedades genéticas: del diagnóstico genético al diagnóstico genómico con la secuenciación masiva.

Diagnóstico molecular de enfermedades genéticas: del diagnóstico genético al diagnóstico genómico con la secuenciación masiva. http://www.sciencedirect.com/science/article/pii/S0716864015000942 Descargar PDF

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Towards single cell ad hoc protocols: First report of a healthy birth after preimplantation genetic diagnosis for methylmalonic acidemia

Towards single cell ad hoc protocols: First report of a healthy birth after preimplantation genetic diagnosis for methylmalonic acidemia http://www.elsevier.es/es-revista-medicina-reproductiva-embriologia-clinica-390-articulo-towards-single-cell-iad-hoc-i-90434511 Descargar PDF

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Diagnóstico genético preimplantación de aneuploidías: de la FISH a la secuenciación masiva

Diagnóstico genético preimplantación de aneuploidías: de la FISH a la secuenciación masiva http://www.revistafertilidad.org/articulo/diagn-oacute-stico-gen-eacute-tico-preimplantaci-oacute-n-de-aneuploid-iacute-as-de-la-fish-a-la-secuenciaci-oacute-n-masiva/187&ie=utf-8&oe=utf-8&gws_rd=cr&ei=f8KwVc-aL4zZU6ranaAH

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Tumor MicroRNA Expression Profiling Identifies Circulating MicroRNAs for Early Breast Cancer Detection

Tumor MicroRNA Expression Profiling Identifies Circulating MicroRNAs for Early Breast Cancer Detection http://www.ncbi.nlm.nih.gov/pubmed/26056355

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In Search of ´Omics´-Based Biomarkers to Predict Risk of Frailty and Its Consequences in Older Individuals: The FRAILOMIC Initiative.

In Search of ‘Omics’-Based Biomarkers to Predict Risk of Frailty and Its Consequences in Older Individuals: The FRAILOMIC Initiative. http://www.ncbi.nlm.nih.gov/pubmed/25993734

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