Large phenotypic spectrum associated with two new deep intronic variants on the CFTR gene Source: International Congress 2018 – Latest developments in cystic fibrosis Year: 2018
The analysis of CHEK2 gene mutation in small cell lung cancer Source: Virtual Congress 2021 – Novel insights into the pathogenesis of chronic lung diseases Year: 2021
Target other gene point mutations: HER2 and rare EGFR mutations Source: ERS Research Seminar Year: 2015
p53 gene mutations in lung cancer in Korean Source: Eur Respir J 2005; 26: Suppl. 49, 327s Year: 2005
Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis Source: Eur Respir J 2016; 48: 1721-1731 Year: 2016
EGFR, KRAS, BRAF and ALK gene alterations in lung adenocarcinomas: patient outcome, interplay with morphology and immunophenotype Source: Eur Respir J 2014; 43: 872-883 Year: 2014
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer Source: Eur Respir J, 56 (6) 2002806; 10.1183/13993003.02806-2020 Year: 2020
Classification of different ABCA3 mutations causing interstitial lung disease Source: International Congress 2015 – New insights into IIPs Year: 2015
Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required? Source: Eur Respir J 2014; 44: 270-271 Year: 2014
Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required? Source: Eur Respir J 2014; 44: 269-270 Year: 2014
Regulator of telomere length 1 (RTEL1 ) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes Source: Eur Respir J, 53 (2) 1800508; 10.1183/13993003.00508-2018 Year: 2019
The correlation between p53 gene mutation and the expression of tumor drug resistance genes in lung cancer and its clinical significance Source: Annual Congress 2005 - Prognostic factors in lung cancer Year: 2005
Familial interstitial lung disease and ABCA3 gene Gly964Asp mutation Source: Annual Congress 2010 - Pathogenesis of diffuse parenchymal lung disease Year: 2010
The extended spectrum of ciliopathy Source: School Course 2013 - Primary ciliary dyskinesia: sharing knowledge and experience across Europe Year: 2013
Cancer-associated oncogenic BARD1 isoforms: From biomarker expression studies to development of a blood test for early detection of lung cancer Source: Annual Congress 2012 - Early detection of lung cancer Year: 2012
Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations. Source: Virtual Congress 2021 – Genetics and translational aspects of idiopathic pulmonary fibrosis Year: 2021
Detection of k-ras codon 12 mutations in human lung tumour tissue by REMS-PCR Source: Eur Respir J 2001; 18: Suppl. 33, 233s Year: 2001
Germ-line exon 21 EGFR mutations, V843I and P848L, in nonsmall cell lung cancer patients Source: Eur Respir Rev 2014; 23: 390-392 Year: 2014
Phenotype heterogeneity in a familial "brain lung thyroid syndrome" related to a novel NKX-2.1 mutation Source: International Congress 2016 – ILD: from the bench to the bedside Year: 2016
The lueokocyte telomere length, single nucleotide polymorphisms near TERC gene and risk of COPD Source: International Congress 2016 – Molecular targets in pulmonary disease Year: 2016