PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency Source: Virtual Congress 2020 – Intercellular communication in tissue remodelling of chronic lung diseases Year: 2020
a1 -antitrypsin PI*SZ genotype: a SERPINA1 deficiency haplotype with uncertain clinical and therapeutic implications Source: Eur Respir J, 55 (6) 2000713; 10.1183/13993003.00713-2020 Year: 2020
Mortality in individuals with severe alpha-1-antitrypsin deficiency (PiZZ) Source: Eur Respir J 2006; 28: Suppl. 50, 144s Year: 2006
A new SERPINA-1 missense mutation associated with alpha-1 antitrypsin deficiency and bronchiectasis. Source: International Congress 2017 – Current molecular and genetic understanding of lung diseases Year: 2017
Alpha1 -antitrypsin deficiency-related PI*Z and PI*S alleles in a random sample of Polish population Source: Eur Respir J 2006; 28: Suppl. 50, 453s Year: 2006
Prevalence and phenotype of subjects carrying rare variants in Argentina for alpha1-antitrypsin deficiency Source: International Congress 2017 – Current molecular and genetic understanding of lung diseases Year: 2017
Tracing down the evolutionary history of Q0Ourém , a rare allele associated with severe alpha-1-antitrypsin deficiency (AATD) Source: Annual Congress 2009 - What is new in molecular pathology and functional genomics of neoplastic and non-neoplastic lung disease? Year: 2009
Severe alpha-1-antitrypsin deficiency (A1ATD) caused by Q0Ourém mutation: A clinical characterization Source: Annual Congress 2010 - Genetics of obstruction Year: 2010
Effect of danazol on acute phase reactants in patients with PiM, PiMZ and PiZ phenotypes for alpha-1-antitrypsin deficiency Source: Eur Respir J 2001; 18: Suppl. 33, 249s Year: 2001
Structural and clinical characterization of novel missense variants of SERPINA1 gene causing alpha-1 antitrypsin deficiency Source: International Congress 2019 – Crosstalk in chronic pulmonary diseases Year: 2019
GSTP1 polymorphisms in patients with COPD and alpha-1 antitrypsin deficiency Source: Eur Respir J 2003; 22: Suppl. 45, 384s Year: 2003
Bronchiectasis in alpha1-antitrypsin deficiency Source: International Congress 2019 – Chronic cough, a1-antitrypsin deficiency and other conditions Year: 2019
Differences of disease phenotypes in individuals with alpha-1-antitrypsin deficiency with genotypes PiZZ and PiSZ - Analysis from the German registry Source: International Congress 2016 – Phenotyping and monitoring airway diseases Year: 2016
Estimates of the prevalence of alpha-1 antitrypsin deficiency PI*S and PI*Z alleles and the numbers at risk in Europe Source: Eur Respir J 2005; 26: Suppl. 49, 219s Year: 2005
Erythrocyte abnormalities in alpha-1-antitrypsin deficiency (AATD) patients Source: Annual Congress 2009 - COPD: exacerbation and clinical problems Year: 2009
Prothrombin 20210 G/A mutation and EPCR I/D polymorphisms were rare in patients with pulmonary thromboembolism in Chinese Han population Source: Annual Congress 2008 - Pulmonary venous thromboembolic disease Year: 2008
Young adult with inherited PiMZ alpha-1-antitrypsin deficiency (A1ATD)-related bronchiectasis: characteristic of blood neutrophils and A1AT protein Source: International Congress 2016 – Translational studies in lung disease Year: 2016
Molecular characterization of novel PiS-like alleles identified in Spanish patients with Alpha-1 antitrypsin deficiency Source: International Congress 2018 – Functional genomics and COPD: new challenges Year: 2018
HLA class II alleles are associated with development of emphysema in alpha-1-antitrypsin deficiency (AATD) Source: Annual Congress 2008 - Advances in functional genomics of neoplastic and non-neoplastic lung diseases Year: 2008
Prevalence of alpha-1-antitrypsin deficiency (A1AD) in patients with COPD. Source: Virtual Congress 2021 – COPD burden, epidemiology and management Year: 2021