Severe alpha-1-antitrypsin deficiency (A1ATD) caused by Q0Ourém mutation: A clinical characterization Source: Annual Congress 2010 - Genetics of obstruction Year: 2010
Mortality in individuals with severe alpha-1-antitrypsin deficiency (PiZZ) Source: Eur Respir J 2006; 28: Suppl. 50, 144s Year: 2006
Prevalence of alpha-1-antitrypsin deficiency (A1AD) in patients with COPD. Source: Virtual Congress 2021 – COPD burden, epidemiology and management Year: 2021
Risk of cancer in individuals with severe alpha-1-antitrypsin deficiency (PiZZ) compared with the Swedish general population Source: Virtual Congress 2020 – Asthma and COPD: How genetic and environment influences its developement? Year: 2020
Prevalence of alpha-1 antitrypsin deficiency (AATD) and frequencies of alleles PI*S and PI*Z in patients with COPD in Brazil Source: Annual Congress 2013 –Assessing the prevalence of COPD in the general population Year: 2013
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
Rare SERPINA1 allele Mwhitstable in patients with Alpha1-antitrypsin deficiency Source: International Congress 2019 – New molecular signatures in COPD, lung cancer and a1-antitrypsin deficiency Year: 2019
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
Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe dyspnea Source: International Congress 2016 – Molecular targets in pulmonary disease Year: 2016
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
Frequency of α-1 antitrypsin deficiency (AATD) in a population screening in an high risk area (Val Trompia, Italy) Source: Eur Respir J 2006; 28: Suppl. 50, 453s Year: 2006
Role of genetic factors in COPD (alpha-1-antitrypsin deficiency and other factors) Source: Annual Congress 2005 - PG13 - COPD: genetic and environmental factors, epidemiology, socio-economic impact and preventative measures Year: 2005
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
The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes Source: Eur Respir J, 56 (6) 2001441; 10.1183/13993003.01441-2020 Year: 2020
MiR-320c regulates SERPINA1 expression and is associated with pulmonary disease in alpha-1-antitrypsin deficiency Source: International Congress 2016 – How the understanding og molecular and genomic crosstalk is helping to diagnose lung disease Year: 2016
Comparison between population with severe (ZZ) and intermediate (MZ) alpha1-antitrypsin deficiency and established COPD Source: International Congress 2019 – Advances in clinical management of COPD Year: 2019
Characterization of a population of alpha1 -antitrypsin deficient (A1 ATD) patients Source: Annual Congress 2008 - COPD 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
Incidence of alpha-1-antitrypsin (α1-AT) deficiency in patients with COPD in Poland, preliminary report Source: Eur Respir J 2005; 26: Suppl. 49, 440s Year: 2005
Severity of lung disease in siblings with α-1-antitrypsin deficiency (AATD) Source: Annual Congress 2008 - COPD Year: 2008