Publicacións nas que colabora con José María Hernández Pérez (19)

2024

  1. Haplotype-Aware Detection of SERPINA1 Variants by Nanopore Sequencing

    Journal of Molecular Diagnostics, Vol. 26, Núm. 11, pp. 971-987

  2. Pi∗S and Pi∗Z Alleles of SERPINA1 Gene Are Associated with Specific Variants of a BRD4-Independent Enhancer

    Human Mutation, Vol. 2024

  3. Real-time PCR detection of PI*S and PI*Z alleles of SERPINA1 gene using SYBR green

    Gene, Vol. 921

2023

  1. Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth

    Thorax, Vol. 78, Núm. 3, pp. 233-241

  2. Alpha-1 Antitrypsin Deficiency and SERPINA1 Variants Could Play a Role in Asthma Exacerbations

    Archivos de Bronconeumologia

  3. Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

    Pulmonology

  4. Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis

    Pulmonology, Vol. 29, Núm. 3, pp. 214-220

  5. Human genetics influences microbiome composition involved in asthma exacerbations despite inhaled corticosteroid treatment

    Journal of Allergy and Clinical Immunology, Vol. 152, Núm. 3, pp. 799-806.e6

  6. The upper-airway microbiome as a biomarker of asthma exacerbations despite inhaled corticosteroid treatment

    Journal of Allergy and Clinical Immunology, Vol. 151, Núm. 3, pp. 706-715

2022

  1. Multi-ancestry genome-wide association study of asthma exacerbations

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, Vol. 33, Núm. 6, pp. e13802

  2. Pulmonary Function and Respiratory Diseases in Different Genotypes of Alpha-1 Antitrypsin Deficiency

    Turkish Thoracic Journal, Vol. 23, Núm. 6, pp. 376-382

2020

  1. New cis-acting variants in PI∗S background produce null phenotypes causing alpha-1 antitrypsin deficiency

    American Journal of Respiratory Cell and Molecular Biology, Vol. 63, Núm. 4, pp. 444-451

  2. Serum levels of glutamate-pyruvate transaminase, glutamate-oxaloacetate transaminase and gamma-glutamyl transferase in 1494 patients with various genotypes for the alpha-1 antitrypsin gene

    Journal of Clinical Medicine, Vol. 9, Núm. 12, pp. 1-8

2019

  1. Changes in the Melting Point of Hybridization Probes Used for Genotyping in Alpha-1 Antitrypsin Deficiency Do Not Always Imply Errors

    Archivos de Bronconeumologia, Vol. 55, Núm. 6, pp. 339-340

  2. Más allá de la enfermedad pulmonar obstructiva crónica

    Medicina general, Vol. 8, Núm. 3

2017

  1. Molecular characterization of PI*Q0 la palma , a new alpha-1-antitrypsin null allele that combines two defective genetic variants

    Clinical Genetics

  2. Estudio de la prevalencia de la deficiencia de alfa-1-antitripsina en la isla de La Palma

    Estudio de la prevalencia de la deficiencia de alfa-1-antitripsina en la isla de La Palma

  3. Identification of a new defective SERPINA1 allele (PI*Zla palma) encoding an alpha-1-antitrypsin with altered glycosylation pattern

    Respiratory Medicine, Vol. 131, pp. 114-117

2015

  1. Descripción de la deficiencia de alfa-1-antitripsina asociada al alelo PI*Q0ourém en la isla de La Palma (España) y de un método de genotipado para su detección

    Archivos de Bronconeumologia, Vol. 51, Núm. 1, pp. e1-e3