Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis
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M. Miravitlles | J. López-Campos | N. Rapun | L. Osaba | J. Jardim | Hakan Günen | Karen Czischke | Estrella Drobnic | Mariano Fernández Acquier | Abraham Ali
[1] J. Tung,et al. Prevalence of Alpha-1 Antitrypsin Deficiency, Self-reported Behavior Change, and Healthcare Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report. , 2021, Chest.
[2] C. Rodríguez-Gallego,et al. Alpha-1 antitrypsin deficiency hidden in allegedly normal variants , 2021, The Journal of asthma : official journal of the Association for the Care of Asthma.
[3] P. Marques,et al. Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum , 2021, The application of clinical genetics.
[4] M. Miravitlles,et al. Spanish implementation of the new international alpha-1 anitrypsin deficiency international registry: The European Alpha-1 Research Collaboration (EARCO) , 2021, Archivos de Bronconeumología (English Edition).
[5] M. Miravitlles,et al. Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency , 2021, Archivos de Bronconeumología (English Edition).
[6] F. Rahaghi,et al. Improving Screening for Alpha-1 Antitrypsin Deficiency With Direct Testing in the Pulmonary Function Testing Laboratory. , 2020, Chronic obstructive pulmonary diseases.
[7] T. Greulich,et al. The Distribution of Alpha-1 Antitrypsin Genotypes Between Patients with COPD/Emphysema, Asthma and Bronchiectasis , 2020, International journal of chronic obstructive pulmonary disease.
[8] Y. Bossé,et al. Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD , 2020, European Respiratory Journal.
[9] G. Lathrop,et al. The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes , 2020, European Respiratory Journal.
[10] J. Chalmers,et al. Utility of routine screening for alpha-1 antitrypsin deficiency in patients with bronchiectasis , 2020, Thorax.
[11] M. Miravitlles,et al. Spanish Implementation of the New International Alpha-1 Anitrypsin Deficiency International Registry: The European Alpha-1 Research Collaboration (EARCO). , 2020, Archivos de bronconeumologia.
[12] A. Corsico,et al. Molecular diagnosis of alpha1‐antitrypsin deficiency: A new method based on Luminex technology , 2020, Journal of clinical laboratory analysis.
[13] A. Turner,et al. What Do Alpha-1 Antitrypsin Levels Tell Us About Chronic Inflammation in COPD? , 2020, Archivos de bronconeumologia.
[14] D. DeLuca,et al. Serum Levels of Alpha1-antitrypsin and Their Relationship With COPD in the General Spanish Population. , 2020, Archivos de bronconeumologia.
[15] A. Echazarreta,et al. Prevalence of Alpha-1 Antitrypsin Deficiency in COPD Patients in Argentina. The DAAT.AR Study. , 2019, Archivos de bronconeumologia.
[16] J. López-Campos,et al. Diagnostic Performance of a Lateral Flow Assay for the Detection of Alpha-1-Antitrypsin Deficiency. , 2019, Archivos de bronconeumologia.
[17] T. Greulich,et al. Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology , 2019, International journal of chronic obstructive pulmonary disease.
[18] D. Addrizzo-Harris,et al. The Clinical Features of Bronchiectasis Associated with Alpha-1 Antitrypsin Deficiency, Common Variable Immunodeficiency and Primary Ciliary Dyskinesia--Results from the U.S. Bronchiectasis Research Registry. , 2019, Chronic obstructive pulmonary diseases.
[19] C. Rodríguez-Gallego,et al. Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites , 2018, Clinical and Translational Allergy.
[20] S. Seixas,et al. Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population , 2018, COPD.
[21] C. Olveira,et al. Spanish Guidelines on the Evaluation and Diagnosis of Bronchiectasis in Adults , 2017 .
[22] T. Kelbel,et al. The Allergist's Role in Detection of Severe Alpha-1 Antitrypsin Deficiency. , 2017, The journal of allergy and clinical immunology. In practice.
[23] M. Margaglione,et al. A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis , 2017, Lung.
[24] T. Greulich,et al. Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015 , 2016, Orphanet Journal of Rare Diseases.
[25] T. Welte,et al. Why do some adults with PiMZ α1-antitrypsin develop bronchiectasis? , 2016, ERJ Open Research.
[26] J. Chorostowska-Wynimko. Targeted screening programmes in COPD: how to identify individuals with α1-antitrypsin deficiency , 2015, European Respiratory Review.
[27] F. D. de Serres,et al. Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review , 2012, Therapeutic advances in respiratory disease.
[28] K. Rabe,et al. Deficient alpha-1-antitrypsin phenotypes and persistent airflow limitation in severe asthma. , 2006, Respiratory medicine.
[29] M. Miravitlles,et al. [Alpha1-antitrypsin deficiency: situation in Spain and development of a screening program]. , 2006, Archivos de bronconeumologia.
[30] M. Miravitlles,et al. Déficit de alfa-1-antitripsina. Situación en España y desarrollo de un programa de detección de casos , 2006 .
[31] F. D. de Serres,et al. Estimated numbers and prevalence of PI*S and PI*Z alleles of α1-antitrypsin deficiency in European countries , 2006, European Respiratory Journal.
[32] M. Miravitlles,et al. Results of a case-detection programme for α1-antitrypsin deficiency in COPD patients , 2005, European Respiratory Journal.
[33] M. Miravitlles,et al. Influence of deficient alpha1-anti-trypsin phenotypes on clinical characteristics and severity of asthma in adults. , 2002, Respiratory medicine.
[34] A novel polymorphism (471C→T) in alpha‐1‐antitrypsin in a patient with asthma , 2001, Human mutation.
[35] R. Crystal,et al. Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles. , 1990, The American review of respiratory disease.
[36] A. Carr,et al. Profiles of the parents of adolescent CSA perpetrators attending a voluntary outpatient treatment programme in Ireland , 2003 .
[37] D. Lomas,et al. Characterization of a new variant of alpha(1)-antitrypsin E(Johannesburg) (H15N) in association with asthma. , 2001, Human mutation.