RESEARCH AND DEVELOPMENT

Publications

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 Download PDF

Publications

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 Download PDF

Publications

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 Download PDF

Publications

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

Publications

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

Publications

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%Download PDF

Publications

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 [...]

Publications

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 Download PDF

Publications

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 Download PDF

Publications

Intra-tumor heterogeneity in TP53 null High Grade Serous Ovarian Carcinoma progression

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

Publications

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

Publications

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 Download PDF

Publications

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

Publications

Laboratory biomarkers and frailty: presentation of the FRAILOMIC initiative

Laboratory biomarkers and frailty: presentation of the FRAILOMIC initiative http://www.ncbi.nlm.nih.gov/pubmed/25993734

Publications

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 Download PDF

Publications

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

Publications

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

Tumor MircroRNA Expression Profiling Identifies Circulating MicroRNAs for Early Breast Cancer Detection Download PDF

Publications

RNA Sequencing Analysis Identifies New Human Collagen Genes Involved in Cardiac Remodeling

RNA Sequencing Analysis Identifies New Human Collagen Genes Involved in Cardiac Remodeling. http://www.ncbi.nlm.nih.gov/pubmed/25814236

Publications

Gene expression network analysis reveals new transcriptional regulators as novel factors in human ischemic cardiomyopathy

Gene expression network analysis reveals new transcriptional regulators as novel factors in human ischemic cardiomyopathy http://www.biomedcentral.com/1755-8794/8/14/abstract

Publications

Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumor

Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumor Download PDF

Publications

Functional Networks of Nucleocytoplasmic Transport-Related Genes Differentiate Ischemic and Dilated Cardiomyopathies. A New Therapeutic Opportunity

Functional Networks of Nucleocytoplasmic Transport-Related Genes Differentiate Ischemic and Dilated Cardiomyopathies. A New Therapeutic Opportunity. Download PDF

Publications

Birth of a healthy boy after PGD for X-linked heterotaxy syndrome

Birth of a healthy boy after PGD for X-linked heterotaxy syndrome Download PDF

Publications

Cardiac Ion Channels in Dilated Cardiomyopathy. A Transcriptomic Analysis Using RNA-Seq

Cardiac Ion Channels in Dilated Cardiomyopathy. A Transcriptomic Analysis Using RNA-Seq Download PDF

Publications

RNA-sequencing analysis reveals new alterations in cardiomyocite cytoskeletal genes in patients with heart failure

RNA-sequencing analysis reveals new alterations in cardiomyocite cytoskeletal genes in patients with heart failure. Download PDF

Publications

RNA Sequencing Analysis and Atrial Natriuretic Peptide Production in Patients with Dilated and Ischemic Cardiomyopathy

RNA Sequencing Analysis and Atrial Natriuretic Peptide Production in Patients with Dilated and Ischemic Cardiomyopathy Download PDF

Publications

Correlation between aneuploidy, apoptotic markers and DNA fragmentation in spermatozoa from normozoospermic patients

Correlation between aneuploidy, apoptotic markers and DNA fragmentation in spermatozoa from normozoospermic patients Download PDF

Publications

Next Generation Diagnostics in Inherited Arrhythmia Syndromes. A Comparison of Two Approaches

Next Generation Diagnostics in Inherited Arrhythmia Syndromes. A Comparison of Two Approaches Download PDF

Publications

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics. Published online 4 April 2013 in Wiley Online Library (www.wiley.com/humanmutation). DOI: 10.1002/humu.22332

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics. Published online 4 April 2013 in Wiley Online Library (www.wiley.com/humanmutation). DOI: 10.1002/humu.22332 Download PDF

Publications

Study of the Cytoskeleton of the Cardiomyocyte in Patients With Heart Failure Using RNA-Seq

Study of the Cytoskeleton of the Cardiomyocyte in Patients With Heart Failure Using RNA-Seq Download PDF

Publications

Estudio de los cambios en el citoesqueleto del cardiomiocito de los pacientes con insuficiencia cardiaca mediante la utilización de RNA-Seq. Congreso de la Sociedad Española de Cardilogía 2013

Estudio de los cambios en el citoesqueleto del cardiomiocito de los pacientes con insuficiencia cardiaca mediante la utilización de RNA-Seq. Congreso de la Sociedad Española de Cardilogía 2013 Download PDF