e-learning
resources
Milan 2017
Sunday, 10.09.2017
Current molecular and genetic understanding of lung diseases
Login
Search all ERS
e-learning
resources
Disease Areas
Airways Diseases
Interstitial Lung Diseases
Respiratory Critical Care
Respiratory Infections
Paediatric Respiratory Diseases
Pulmonary Vascular Diseases
Sleep and Breathing Disorders
Thoracic Oncology
Events
International Congress
Courses
Webinars
Conferences
Research Seminars
Journal Clubs
Publications
Breathe
Monograph
ERJ
ERJ Open Research
ERR
European Lung White Book
Handbook Series
Guidelines
All ERS guidelines
e-learning
CME Online
Case reports
Short Videos
SpirXpert
Procedure Videos
CME tests
Reference Database of Respiratory Sounds
Radiology Image Challenge
Brief tobacco interventions
EU Projects
VALUE-Dx
ERN-LUNG
ECRAID
UNITE4TB
Disease Areas
Events
Publications
Guidelines
e-learning
EU Projects
Login
Search
Prevalence and phenotype of subjects carrying rare variants in Argentina for alpha1-antitrypsin deficiency
V. Lorenzon (BUENOS AIRES, Argentina)
Source:
International Congress 2017 – Current molecular and genetic understanding of lung diseases
Session:
Current molecular and genetic understanding of lung diseases
Session type:
Thematic Poster
Number:
966
Disease area:
Airway diseases
Rating:
You must
login
to grade this presentation.
Share or cite this content
Citations should be made in the following way:
V. Lorenzon (BUENOS AIRES, Argentina). Prevalence and phenotype of subjects carrying rare variants in Argentina for alpha1-antitrypsin deficiency. 966
You must
login
to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.
Member's Comments
No comment yet.
You must
Login
to comment this presentation.
Related content which might interest you:
Observational cohort study of pulmonary exacerbations in alpha-1 antitrypsin deficiency
Asbestosis
Whole genome sequencing of the highly virulent subtype B0/W148 of the Beijing genotype M.tuberculosis in Kharkiv, East Ukraine
Related content which might interest you:
Clinical phenotype of individuals with common COPD investigated during the targeted detection programme for alpha1-antitrypsin deficiency in Italy
Source: Annual Congress 2007 - Clinical aspects in COPD
Year: 2007
Characterization of a population of alpha
1
-antitrypsin deficient (A
1
ATD) patients
Source: Annual Congress 2008 - COPD
Year: 2008
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
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
Tracing down the evolutionary history of Q0
Ourém
, 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 Q0
Ourém
mutation: A clinical characterization
Source: Annual Congress 2010 - Genetics of obstruction
Year: 2010
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 mannose-binding lectin variant alleles among cystic fibrosis patients in Italy
Source: Eur Respir J 2002; 20: Suppl. 38, 339s
Year: 2002
Estimated numbers and prevalence of PI*S and PI*Z alleles of α1-antitrypsin deficiency in European countries
Source: Eur Respir J 2006; 27: 77-84
Year: 2006
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
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
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
Prevalence of alpha-1-antitrypsin deficiency (A1AD) in patients with COPD.
Source: Virtual Congress 2021 – COPD burden, epidemiology and management
Year: 2021
Mortality in individuals with severe alpha-1-antitrypsin deficiency (PiZZ)
Source: Eur Respir J 2006; 28: Suppl. 50, 144s
Year: 2006
a
1
-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
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
Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of α1-antitrypsin deficiency in Asia
Source: Eur Respir J 2006; 28: 1091-1099
Year: 2006
SERPINA1 gene variants in subjects from a general population with reduced alpha1-antitrypsin level
Source: Annual Congress 2008 - COPD
Year: 2008
Does urinary peptide content differ between COPD patients with and without inherited alpha1-antitrypsin deficiency?
Source: International Congress 2017 – Novel molecular and genetic targets in COPD
Year: 2017
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
We use cookies on our website to give you the most relevant experience by remembering your preferences and repeat visits. By clicking "Accept", you consent to the use of the cookies.
Accept