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British Journal of Dermatology, ISSN 0007-0963, 11/2019, Volume 181, Issue 5, pp. 1097 - 1099
Journal Article
Human Mutation, ISSN 1059-7794, 10/2017, Volume 38, Issue 10, pp. 1297 - 1315
Journal Article
Journal of Cystic Fibrosis, ISSN 1569-1993, 06/2019, Volume 18, pp. S62 - S62
Journal Article
Journal of Cystic Fibrosis, ISSN 1569-1993, 2016, Volume 15, pp. S53 - S53
Journal Article
Journal of Cystic Fibrosis, ISSN 1569-1993, 06/2019, Volume 18, pp. S61 - S62
Journal Article
European Journal of Clinical Pharmacology, ISSN 0031-6970, 11/2008, Volume 64, Issue 11, pp. 1043 - 1045
Journal Article
Journal of Cystic Fibrosis, ISSN 1569-1993, 06/2018, Volume 17, pp. S31 - S31
Journal Article
Journal of Cystic Fibrosis, ISSN 1569-1993, 2017, Volume 16, pp. S27 - S27
Journal Article
Respiratory Medicine, ISSN 0954-6111, 2017, Volume 129, pp. 16 - 23
Abstract We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated... 
Pulmonary/Respiratory | NKX2-1 | Treatment | Prognosis | Surfactant | Interstitial lung disease | Steroids | CARDIAC & CARDIOVASCULAR SYSTEMS | BENIGN HEREDITARY CHOREA | FOLLOW-UP | NKX2-1 MUTATIONS | PROTEIN-C | PHENOTYPIC SPECTRUM | GENE | RESPIRATORY SYSTEM | CONGENITAL HYPOTHYROIDISM | TRANSCRIPTION FACTOR-I | THYROID SYNDROME | RESPIRATORY-FAILURE | Respiratory Distress Syndrome, Newborn - complications | Humans | Athetosis - genetics | Male | Pulmonary Surfactants - metabolism | Respiratory Distress Syndrome, Newborn - pathology | Tomography, X-Ray Computed | Lung Diseases - therapy | Pulmonary Surfactant-Associated Protein B - genetics | Lung Diseases, Interstitial - diagnostic imaging | Lung Diseases, Interstitial - therapy | Chorea - complications | Respiratory Distress Syndrome, Newborn - etiology | Pulmonary Alveolar Proteinosis - genetics | Congenital Hypothyroidism - genetics | Respiratory Distress Syndrome, Newborn - genetics | Adult | Female | Thyroid Nuclear Factor 1 - genetics | Retrospective Studies | Lung Diseases, Interstitial - physiopathology | Child | Genes, Homeobox | France - epidemiology | Pulmonary Surfactant-Associated Protein B - deficiency | Respiratory Function Tests - methods | Treatment Outcome | Lung Diseases, Interstitial - complications | Chorea - pathology | Pulmonary Alveolar Proteinosis - complications | Lung Diseases - genetics | Lung Diseases, Interstitial - genetics | Athetosis - complications | Adolescent | Congenital Hypothyroidism - pathology | Lung Diseases - complications | Bronchoalveolar Lavage Fluid - chemistry | Lung Diseases - pathology | Mutation | Chorea - genetics | Athetosis - pathology | Congenital Hypothyroidism - complications | Analysis | Lung diseases | Therapeutics | Genetic research | Transplantation of organs, tissues, etc | Pulmonary function tests | Genetic aspects | Homeopathy | Materia medica and therapeutics | Development and progression | Hypothyroidism | Neonates | Brain | Respiratory function | Transcription factors | Intelligence | Syngeneic grafts | Lung transplantation | Medical services | Azithromycin | Families & family life | Transplantation | Thyroid gland | Homeobox | Proteins | Heterogeneity | Genetic analysis | Xenografts | Diagnosis | Children | Deoxyribonucleic acid--DNA | Thyroid | Surfactants | Patients | Hydroxychloroquine | Pulmonary fibrosis | Respiratory distress syndrome | Steroid hormones
Journal Article
Journal Article
BIOCHEMICAL JOURNAL, ISSN 0264-6021, 07/2008, Volume 413, pp. 135 - 142
CFTR (cystic fibrosis transmembrane conductance regulator) is an epithelial Cl- channel inhibited with high affinity and selectivity by the thiazolidinone... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | CORRECTORS | ACTIVATORS | mutagenesis | DISCOVERY | TRANSMEMBRANE CONDUCTANCE REGULATOR | CHLORIDE-CHANNEL | cystic fibrosis transmembrane conductance regulator (CFTR) | chloride channel | cystic fibrosis | PHARMACOLOGY | channel blocker | IN-VIVO | PORE | CYSTIC-FIBROSIS | SECRETION
Journal Article