Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation Source: Eur Respir J 2004; 24: 1072-1073 Year: 2004
Intersitial lung disease in chlidren with mutation in the SFTPC and SFPTB gene: A two case report Source: International Congress 2017 – Pulmonary infection and inflammation Year: 2017
Gene variant rs2305480 C>T in gasdermin B gene (GSDMB) among Bulgarian children with recurrent wheezing Source: International Congress 2014 – Genetics and environmental factors underlying asthma and COPD Year: 2014
Determination of a single nucleotide polymorphism (SNP) of the TNFalpha-R1 region (TNFRSF1A) in patients with lung sarcoidosis: Preliminary results Source: International Congress 2015 – Sarcoidosis: pathogenesis Year: 2015
Pediatric interstitial lung disease caused by a novel ABCA3 mutation: ABCA3G964A Source: Annual Congress 2009 - Cell biology of lung disease Year: 2009
Case presentation: An old known and rarely seen etiology of respiratory failure Source: Respiratory Failure and Mechanical Ventilation Conference 2020 Year: 2020
Atypical "sarcoidosis" in an adult man: a case of type B Niemann-Pick disease Source: Eur Respir J 2006; 28: Suppl. 50, 538s Year: 2006
Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required? Source: Eur Respir J 2014; 44: 269-270 Year: 2014
Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required? Source: Eur Respir J 2014; 44: 270-271 Year: 2014
Case presentation: NIV-induced neck lymphoedema in OSA-COPD overlap syndrome: a case report Source: Respiratory Failure and Mechanical Ventilation Conference 2020 Year: 2020
Case 2: Is it pneumonia, pneumonitis, or progressive disease? Source: International Congress 2017 – CC7 Pneumonia, pneumonitis, or progressive disease during immunotherapy in lung cancer? Year: 2017
Severe alpha-1-antitrypsin deficiency (A1ATD) caused by Q0Ourém mutation: A clinical characterization Source: Annual Congress 2010 - Genetics of obstruction Year: 2010
Case 1: Is it pneumonia, pneumonitis, or progressive disease? Source: International Congress 2017 – CC7 Pneumonia, pneumonitis, or progressive disease during immunotherapy in lung cancer? Year: 2017
LSC 2010 Abstract: Functional variant of the ANXA11 gene: True marker of protection and candidate disease modifier in sarcoidosis Source: Annual Congress 2010 - Sarcoidosis: genes and mechanisms Year: 2010
Phenotypic characteristics in adult cystic fibrosis (CF) patients carrying 3849+10kbC>T mutation in Russia Source: International Congress 2015 – Cystic fibrosis: microbiology, immunology and assessment Year: 2015
SP-C deficiency: Three different phenotypes for the same mutation Source: International Congress 2015 – Paediatric bronchology Year: 2015
Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation Source: Eur Respir J 2009; 33: 1510-1512 Year: 2009
Interstitial lung disease in a child heterozygous for the 1549C?GAA (121ins2) mutation of surfactant protein B Source: Eur Respir J 2011; 38: 985-987 Year: 2011
Hemoptysis in a teenager: A rare case of bronchiectasis in autoimmune polyendocrinopathy type I syndrome Source: International Congress 2014 – Basic and translational research in lung cancer and non-neoplastic pulmonary diseases Year: 2014
Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred Source: Eur Respir J 2011; 38: 861-869 Year: 2011