Search Results - "Díaz, Ruth Ramos"

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    Real-time PCR detection of PIS and PIZ alleles of SERPINA1 gene using SYBR green by Ramos-Díaz, Ruth, Escuela-Escobar, Ainhoa, Díaz-Usera, Ana, Hernández Pérez, José María, González-Carracedo, Mario Andrés, Pérez-Pérez, José Antonio

    Published in Gene (30-08-2024)
    “…•Alpha-1 antitrypsin deficiency (AATD) remains underdiagnosed.•AATD is mainly caused by PI*Z and PI*S alleles of the SERPINA1 gene.•A novel genotyping test for…”
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    Journal Article
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    Identification of a new defective SERPINA1 allele (PIZla palma) encoding an alpha-1-antitrypsin with altered glycosylation pattern by Hernández-Pérez, José M., Ramos-Díaz, Ruth, Pérez, José A.

    Published in Respiratory medicine (01-10-2017)
    “…Alpha-1-antitrypsin (AAT) deficiency is a genetic condition that arises from mutations in the SERPINA1 gene and predisposes to develop pulmonary emphysema and,…”
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    Journal Article
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    Validation of a fast and low-cost alkaline lysis method for gDNA extraction in a pharmacogenetic context by Ramos-Díaz, Ruth, Gutiérrez-Nicolás, Fernando, Nazco-Casariego, Gloria J, González-Perera, Itamar, Pérez-Pérez, José A

    Published in Cancer chemotherapy and pharmacology (01-05-2015)
    “…Purpose Translation of pharmacogenetic findings from the research laboratory to the clinical practice demands simple and efficient procedures. In this sense,…”
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    Journal Article
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    Reducing the degree of colonisation of venous access catheters by continuous passive disinfection by Gutiérrez Nicolás, Fernando, Nazco Casariego, Gloria Julia, Viña Romero, María Micaela, González García, Jonathan, Ramos Diaz, Ruth, Perez Perez, Jose Antonio

    “…IntroductionThe advent of Luer-type needleless venous access catheters has been accompanied by a growing number of catheter-related bloodstream infections. Our…”
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    Journal Article
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    Anti-drug antibodies anti-trastuzumab in the treatment of breast cancer by Padrón, Ivette Mourani, García, Jonathan González, Díaz, Ruth Ramos, Lenza, Isaac Ceballos, Nicolás, Fernando Gutiérrez

    Published in Journal of oncology pharmacy practice (01-08-2021)
    “…Introduction Trastuzumab is a monoclonal antibody which could induce the activation of a humoral immune response generating anti-drug antibodies (ADAs). Such…”
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    Journal Article
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    Extended enzymatic stability of reconstituted lyophilized PEG-asparaginase in vials by Viña-Romero, María M, Ramos Díaz, Ruth, González García, Jónathan, Nazco-Casariego, Gloria, Díaz-Vera, Jésica, Gutiérrez-Nicolás, Fernando

    Published in Journal of oncology pharmacy practice (01-07-2021)
    “…Asparaginase (ASNase) use as a tumour-inhibitor drug has changed completely the natural course of paediatric acute lymphoblastic leukaemia (ALL) in such a way…”
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    Journal Article
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    Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study by Miarons, Marta, Manzaneque Gordón, Alba, Riera, Pau, Gutiérrez Nicolás, Fernando

    Published in The oncologist (Dayton, Ohio) (01-05-2023)
    “…Abstract Introduction Identifying polymorphisms in the dihydropyrimidine dehydrogenase (DPYD) gene is gaining importance to be able to predict…”
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    Journal Article
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    Effect of UGT, SLCO, ABCB and ABCC polymorphisms on irinotecan toxicity by García Gil, Sara, Ramos Díaz, Ruth, Nazco Casariego, Gloria Julia, Llanos Muñoz, Marta, Viña Romero, Maria Micaela, Martín Calero, Braulio, Pérez Pérez, Jose Antonio, Gutiérrez Nicolás, Fernando

    Published in Medicina clínica (English ed.) (14-12-2018)
    “…Evaluate the relationship between the presence of polymorphisms in genes involved in the pharmacodynamics of irinotecan (UGT1A, SLCO1B1, ABCB1 and ABCC2) and…”
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    Journal Article
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    Description of alpha-1-antitrypsin deficiency associated with PIQ0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection by Hernández Pérez, José María, Ramos Díaz, Ruth, Fumero García, Sergio, Pérez Pérez, José Antonio

    “…By analysis of a case of discrepancy between serum alpha-1-antitrypsin (AAT) level and genotype for the most common defective alleles associated with AAT…”
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    Journal Article
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    Description of Alpha-1-Antitrypsin Deficiency Associated With PIQ0ourém Allele in La Palma Island (Spain) and a Genotyping Assay for Detection by Hernández Pérez, José María, Ramos Díaz, Ruth, Fumero García, Sergio, Pérez Pérez, José Antonio

    “…By analysis of a case of discrepancy between serum alpha-1-antitrypsin (AAT) level and genotype for the most common defective alleles associated with AAT…”
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    Journal Article
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    Description of Alpha-1-Antitrypsin Deficiency Associated With PIQ0 ourém Allele in La Palma Island (Spain) and a Genotyping Assay for Detection by Hernández Pérez, José María, Ramos Díaz, Ruth, Fumero García, Sergio, Pérez Pérez, José Antonio

    “…Abstract By analysis of a case of discrepancy between serum alpha-1-antitrypsin (AAT) level and genotype for the most common defective alleles associated with…”
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    Journal Article
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    Descripción de la deficiencia de alfa-1-antitripsina asociada al alelo PIQ0ourém en la isla de La Palma (España) y de un método de genotipado para su detección by Hernández Pérez, José María, Ramos Díaz, Ruth, Fumero García, Sergio, Pérez Pérez, José Antonio

    Published in Archivos de bronconeumología (01-01-2015)
    “…Mediante el análisis de un caso de discordancia entre el nivel de alfa-1-antitripsina (AAT) en suero y el genotipo para los alelos deficientes más…”
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    Journal Article
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