Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis

[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.