José Antonio
Pérez Pérez
Associate Professor
José María
Hernández Pérez
Publications by the researcher in collaboration with José María Hernández Pérez (13)
2024
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Haplotype-Aware Detection of SERPINA1 Variants by Nanopore Sequencing
Journal of Molecular Diagnostics
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Real-time PCR detection of PI*S and PI*Z alleles of SERPINA1 gene using SYBR green
Gene, Vol. 921
2023
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Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations
Pulmonology
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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
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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
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Pulmonary Function and Respiratory Diseases in Different Genotypes of Alpha-1 Antitrypsin Deficiency
Turkish Thoracic Journal, Vol. 23, Núm. 6, pp. 376-382
2020
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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
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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
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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
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Más allá de la enfermedad pulmonar obstructiva crónica
Medicina general, Vol. 8, Núm. 3
2017
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Molecular characterization of PI*Q0 la palma , a new alpha-1-antitrypsin null allele that combines two defective genetic variants
Clinical Genetics
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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
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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