Clinical considerations in individuals with a1 -antitrypsin PI*SZ genotype Source: Eur Respir J, 55 (6) 1902410; 10.1183/13993003.02410-2019 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
Novel genetic variants in alpha-1 antitripsin deficiency cases carrying S alleles and discordant genotype and serum levels Source: International Congress 2015 – Promising novel findings in translational pulmonary research Year: 2015
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
Clinical consequences and longitudinal outcomes in PiMZ heterozygous a1-antitrypsin deficiency smokers from SPIROMICS Source: Virtual Congress 2021 – Pearls in immunology, outcome studies and clinical trials in asthma, alpha-1 antitrypsin deficiency and COPD Year: 2021
Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients Source: Eur Respir J 2015; 46: 197-206 Year: 2015
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
M2 allele of alpha1-antitrypsin gene and genetic susceptibility to COPD in Korean men Source: Eur Respir J 2005; 26: Suppl. 49, 442s Year: 2005
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
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
SERPINA1 gene variants in subjects from a general population with reduced alpha1-antitrypsin level Source: Annual Congress 2008 - COPD Year: 2008
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
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
Severe alpha-1-antitrypsin deficiency (A1ATD) caused by Q0Ourém mutation: A clinical characterization Source: Annual Congress 2010 - Genetics of obstruction Year: 2010
Positive association of PPARG2 and PPARGC1A gene polymorphisms with sarcoidosis susceptibility Source: Annual Congress 2007 - Novel therapeutic targets and disease markers in pulmonary pathology Year: 2007
GSTP1 polymorphisms in patients with COPD and alpha-1 antitrypsin deficiency Source: Eur Respir J 2003; 22: Suppl. 45, 384s Year: 2003
Clinical, functional, radiologic and quality of life characteristics in PI*SZ Alpha 1-Antitrypsin Deficiency (AATD) compared to PI*ZZ, PI*MZ and COPD without AATD: a retrospective cohort study. Source: Virtual Congress 2021 – Biomarkers to phenotype COPD: prediction of exacerbations Year: 2021
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
HLA-DRB1 allele frequencies in Finnish sarcoidosis patients and associations with disease prognosis Source: Annual Congress 2010 - Lung cancer, idiopathic pulmonary fibrosis and sarcoidosis: the genetic approach Year: 2010
COPD in individuals with the PiMZ alpha-1 antitrypsin genotype Source: Eur Respir Rev, 26 (146) 170068; 10.1183/16000617.0068-2017 Year: 2017