Search Results - "Fernandez, Guerau"

Molecular Modelling Hurdle in the Next-Generation Sequencing Era by Fernandez, Guerau, Yubero, Dèlia, Palau, Francesc, Armstrong, Judith

“…There are challenges in the genetic diagnosis of rare diseases, and pursuing an optimal strategy to identify the cause of the disease is one of the main…”
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Maternal proteomic profiling reveals alterations in lipid metabolism in late-onset fetal growth restriction by Paules, Cristina, Youssef, Lina, Miranda, Jezid, Crovetto, Francesca, Estanyol, Josep Maria, Fernandez, Guerau, Crispi, Fatima, Gratacós, Eduard

“…Fetal growth restriction defined as the failure to achieve the fetal genetic growth potential is a major cause of perinatal morbidity and mortality. The role…”
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The diagnosis of the first‐documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome by Martorell, Loreto, Yubero, Delia, Capdevila, Esther Cuatrecasas, Fernández Isern, Guerau, Salinas, Diana, Mari Vico, Rosanna, Rebollo, Mónica, Muchart, Jordi, Armstrong, Judith, Ortigoza‐Escobar, Juan Darío

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Muscular carnosine is a marker for cardiorespiratory fitness and cardiometabolic risk factors in men with type 1 diabetes by Brugnara, Laura, García, Ana Isabel, Murillo, Serafín, Ribalta, Josep, Fernandez, Guerau, Marquez, Susanna, Rodriguez, Miguel Angel, Vinaixa, Maria, Amigó, Núria, Correig, Xavier, Kalko, Susana, Pomes, Jaume, Novials, Anna

“…Purpose Muscle is an essential organ for glucose metabolism and can be influenced by metabolic disorders and physical activity. Elevated muscle carnosine…”
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Plasma coenzyme Q10 status is impaired in selected genetic conditions by Montero, Raquel, Yubero, Delia, Salgado, Maria C., González, María Julieta, Campistol, Jaume, O’Callaghan, Maria del Mar, Pineda, Mercè, Delgadillo, Verónica, Maynou, Joan, Fernandez, Guerau, Montoya, Julio, Ruiz-Pesini, Eduardo, Meavilla, Silvia, Neergheen, Viruna, García-Cazorla, Angels, Navas, Placido, Hargreaves, Iain, Artuch, Rafael

“…Identifying diseases displaying chronic low plasma Coenzyme Q 10 (CoQ) values may be important to prevent possible cardiovascular dysfunction. The aim of this…”
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Cell line-dependent variability in HIV activation employing DNMT inhibitors by Fernandez, Guerau, Zeichner, Steven L

“…Long-lived reservoirs of Human Immunodeficiency Virus (HIV) latently infected cells present the main barrier to a cure for HIV infection. Much interest has…”
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Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins by Batllori, Marta, Casado, Mercedes, Sierra, Cristina, Salgado, Maria Del Carmen, Marti-Sanchez, Laura, Maynou, Joan, Fernandez, Guerau, Garcia-Cazorla, Angels, Ormazabal, Aida, Molero-Luis, Marta, Artuch, Rafael

“…Cerebrospinal fluid (CSF) metabolomic investigations are a powerful tool for studying neurometabolic diseases. We aimed to assess the effect of CSF…”
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Targeting IκB Proteins for HIV Latency Activation: the Role of Individual IκB and NF-κB Proteins by Fernandez, Guerau, Zaikos, Thomas D, Khan, Sohrab Z, Jacobi, Ashley M, Behlke, Mark A, Zeichner, Steven L

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Association of T and NK Cell Phenotype With the Diagnosis of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) by Rivas, Jose Luis, Palencia, Teresa, Fernández, Guerau, García, Milagros

“…Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a pathological condition characterized by incapacitating fatigue and a combination of…”
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Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants by Revert Barberà, Anna, Fernández Isern, Guerau, Ortigoza‐Escobar, Juan Darío

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Characterization of Inflammatory Response in Acute-on-Chronic Liver Failure and Relationship with Prognosis by Solé, Cristina, Solà, Elsa, Morales-Ruiz, Manuel, Fernàndez, Guerau, Huelin, Patricia, Graupera, Isabel, Moreira, Rebeca, de Prada, Gloria, Ariza, Xavier, Pose, Elisa, Fabrellas, Núria, Kalko, Susana G., Jiménez, Wladimiro, Ginès, Pere

“…ACLF is characterized by a systemic inflammatory response, but the cytokines involved in this process have not been well studied. The aim of this study was to…”
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The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases by Yubero, Dèlia, Natera-de Benito, Daniel, Pijuan, Jordi, Armstrong, Judith, Martorell, Loreto, Fernàndez, Guerau, Maynou, Joan, Jou, Cristina, Roldan, Mònica, Ortez, Carlos, Nascimento, Andrés, Hoenicka, Janet, Palau, Francesc

“…The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the grouping of clinical symptoms and signs towards the molecular…”
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Fitness Landscape of Human Immunodeficiency Virus Type 1 Protease Quasispecies by FERNANDEZ, Guerau, CLOTET, Bonaventura, ANGEL MARTINEZ, Miguel

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Germline mutations in WNK2 could be associated with serrated polyposis syndrome by Soares de Lima, Yasmin, Arnau-Collell, Coral, Muñoz, Jenifer, Herrera-Pariente, Cristina, Moreira, Leticia, Ocaña, Teresa, Díaz-Gay, Marcos, Franch-Expósito, Sebastià, Cuatrecasas, Miriam, Carballal, Sabela, Lopez-Novo, Anael, Moreno, Lorena, Fernàndez, Guerau, Díaz de Bustamante, Aranzazu, Peters, Sophia, Sommer, Anna K, Spier, Isabel, Te Paske, Iris B A W, van Herwaarden, Yasmijn J, Castells, Antoni, Bujanda, Luis, Capellà, Gabriel, Steinke-Lange, Verena, Mahmood, Khalid, Joo, JiHoon Eric, Arnold, Julie, Parry, Susan, Macrae, Finlay A, Winship, Ingrid M, Rosty, Christophe, Cubiella, Joaquin, Rodríguez-Alcalde, Daniel, Holinski-Feder, Elke, de Voer, Richarda, Buchanan, Daniel D, Aretz, Stefan, Ruiz-Ponte, Clara, Valle, Laura, Balaguer, Francesc, Bonjoch, Laia, Castellvi-Bel, Sergi

“…Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic…”
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Fusion InPipe, an integrative pipeline for gene fusion detection from RNA-seq data in acute pediatric leukemia by Vicente-Garcés, Clara, Maynou, Joan, Fernández, Guerau, Esperanza-Cebollada, Elena, Torrebadell, Montserrat, Català, Albert, Rives, Susana, Camós, Mireia, Vega-García, Nerea

“…RNA sequencing (RNA-seq) is a reliable tool for detecting gene fusions in acute leukemia. Multiple bioinformatics pipelines have been developed to analyze…”
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Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report by Amato, Maria Eugenia, Ricart, Silvia, Vicente, Maria Asunción, Martorell, Loreto, Armstrong, Judith, Fernández Isern, Guerau, Mascaro, José Manuel, Balsells, Sol, Alonso, Itziar, Serrano, Mercedes, Ortigoza‐Escobar, Juan Darío

“…Key Clinical Message The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and…”
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MULTI-OMICS CHARACTERIZATION OF NEURODEVELOPMENTAL DISORDERS by Illescas, Katia Sofia, Isern, Guerau Fernández, Oyarzábal, Alfonso, García-Cazorla, Àngels

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Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease by Oyarzabal, Alfonso, Xiol, Clara, Castells, Alba Aina, Grau, Cristina, O’Callaghan, Mar, Fernández, Guerau, Alcántara, Soledad, Pineda, Mercè, Armstrong, Judith, Altafaj, Xavier, García-Cazorla, Angels

“…Rett syndrome, a serious neurodevelopmental disorder, has been associated with an altered expression of different synaptic-related proteins and aberrant…”
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PB1700: GENOMIC CHARACTERIZATION OF CHILDHOOD B‐OTHER ACUTE LEUKEMIA PATIENTS BY RNA SEQUENCING IN A SINGLE CENTER by Garcés, Clara Vicente, Fernández, Guerau, Cebollada, Elena Esperanza, Rives, Susana, Dapena, Jose Luis, Guijosa, Mireia Camos, García, Nerea Vega

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Comprehensive Analysis of GABA A -A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease by Oyarzabal, Alfonso, Xiol, Clara, Castells, Alba Aina, Grau, Cristina, O'Callaghan, Mar, Fernández, Guerau, Alcántara, Soledad, Pineda, Mercè, Armstrong, Judith, Altafaj, Xavier, García-Cazorla, Angels

“…Rett syndrome, a serious neurodevelopmental disorder, has been associated with an altered expression of different synaptic-related proteins and aberrant…”
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