Genetic characterization of cystic fibrosis patients in Portugal

L. Pereira, P. Azevedo, J. Cavaco, M. Felix, F. Gamboa, A. Amorim, L. Vaz, H. Rocha, J. Goncalves, C. Freitas, C. Barreto (Lisboa, Coimbra, Porto, Ponta Delgada, Funchal, Portugal)

Source: Annual Congress 2013 –Cystic fibrosis: clinical problems, genetics and microbiology in children
Session: Cystic fibrosis: clinical problems, genetics and microbiology in children
Session type: Thematic Poster Session
Number: 1191
Disease area: Paediatric lung diseases

Congress or journal article abstractE-poster

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
L. Pereira, P. Azevedo, J. Cavaco, M. Felix, F. Gamboa, A. Amorim, L. Vaz, H. Rocha, J. Goncalves, C. Freitas, C. Barreto (Lisboa, Coimbra, Porto, Ponta Delgada, Funchal, Portugal). Genetic characterization of cystic fibrosis patients in Portugal. Eur Respir J 2013; 42: Suppl. 57, 1191

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:
The impact of genotype on clinical course of cystic fibrosis (CF) in adult patients
Source: Annual Congress 2013 –Cystic fibrosis: clinical problems and microbiology in adults
Year: 2013


Single nucleotide polymorphims 1540G/A, 2694T/G and 4521G/A of CFTR gene and their association with cystic fibrosis phenotype
Source: International Congress 2014 – Cystic fibrosis: genotypes, inflammation and microbiology
Year: 2014

The role of CFTR/ENaC genotype in cystic fibrosis-like phenotypes
Source: International Congress 2014 – Cystic fibrosis: basic science, physiology and clinical aspects
Year: 2014

Risk of asthma in heterozygous carriers for cystic fibrosis: A meta-analysis
Source: International Congress 2016 – Cystic fibrosis: various aspects
Year: 2016


Novel protein biomarkers of bronchiectasis in children with cystic fibrosis
Source: International Congress 2014 – Cystic fibrosis: basic science, physiology and clinical aspects
Year: 2014

Clinical features of adult’s cystic fibrosis in the Republic of Belarus
Source: Annual Congress 2013 –Cystic fibrosis: clinical problems and microbiology in adults
Year: 2013

p.Leu206Trp mutation: Genotype-phenotype correlation in 23 paediatric / adults cystic fibrosis (CF) patients
Source: Annual Congress 2013 –Cystic fibrosis: clinical problems, genetics and microbiology in children
Year: 2013


Phenotype characterization of non-cystic fibrosis bronchiectasis in India.
Source: International Congress 2017 – Bronchiectasis and NTM infections: epidemiology, phenotyping and therapeutic strategies
Year: 2017

National survey of hearing assessment in patients with cystic fibrosis in the UK
Source: International Congress 2016 – Cystic fibrosis: various aspects
Year: 2016


Screening colonoscopy in adults with cystic fibrosis
Source: International Congress 2014 – Cystic fibrosis: basic science, physiology and clinical aspects
Year: 2014

Clinical, functional and microbiological characteristics of an adult brazilian cystic fibrosis population
Source: International Congress 2014 – Cystic fibrosis: clinical assessment and treatment
Year: 2014


Genetics, pathophysiology and diagnosis of Cystic fibrosis
Source: ERS Skills Course 2016
Year: 2016

Retrospective analysis of treatment with Ivacaftor/Lumacaftor in patients with cystic fibrosis at the Munich Cystic Fibrosis Centers
Source: International Congress 2018 – Latest developments in cystic fibrosis
Year: 2018



Evidence incidence of cystic fibrosis: A 30-year study in Krasnoyarsk, Russia
Source: Annual Congress 2013 –Cystic fibrosis: clinical problems, genetics and microbiology in children
Year: 2013

A new risk factor predicts ABPA in patients with cystic fibrosis
Source: International Congress 2015 – Cystic fibrosis: assessment and treatment
Year: 2015

Cystic fibrosis diagnosis in adulthood as a result of study of relatives within the newborn screening programme
Source: International Congress 2015 – Cystic fibrosis: assessment and treatment
Year: 2015


Modelling future trends in cystic fibrosis demography using the French Cystic Fibrosis Registry: update and sensitivity analysis
Source: Eur Respir J, 50 (2) 1700763; 10.1183/13993003.00763-2017
Year: 2017



Polymorphisms in NOS-1 and NOS-3 genes may influence the cystic fibrosis severity?
Source: International Congress 2014 – Cystic fibrosis: genotypes, inflammation and microbiology
Year: 2014

Annual change of LCI among patients with cystic fibrosis
Source: International Congress 2016 – Cystic fibrosis: monitoring and management
Year: 2016

Lung MRI findings in children with cystic fibrosis
Source: International Congress 2014 – Cystic fibrosis: clinical assessment and treatment
Year: 2014