Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: A multicentre retrospective study

Autor: Quentin, Philippot, Caroline, Kannengiesser, Marie Pierre, Debray, Clément, Gauvain, Ibrahima, Ba, Margherita, Vieri, Anne, Gondouin, Jean-Marc, Naccache, Martine, Reynaud-Gaubert, Yurdagul, Uzunhan, Benjamin, Bondue, Dominique, Israël-Biet, Philippe, Dieudé, Cécile, Fourrage, Elodie, Lainey, Effrosyne, Manali, Spyros, Papiris, Lidwine, Wemeau, Sandrine, Hirschi, Hervé, Mal, Hilario, Nunes, Frédéric, Schlemmer, Elodie, Blanchard, Fabian, Beier, Vincent, Cottin, Bruno, Crestani, Raphaël, Borie

Publikováno v: Respirology (Carlton, Vic.)REFERENCES. 27(3)

Poly(A)-specific ribonuclease (PARN) mutations have been associated with familial pulmonary fibrosis. This study aims to describe the phenotype of patients with interstitial lung disease (ILD) and heterozygous PARN mutations.We performed a retrospect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8501f62b582b497ace869cf4558cf2d
https://pubmed.ncbi.nlm.nih.gov/34981600

Pulmonary Fibrosis in Children

Autor: Guillaume Thouvenin, Chiara Sileo, Hubert Ducou Le Pointe, Effrosyne Manali, Nadia Nathan, Aurore Coulomb L'Hermine, Annick Clement, Laura Berdah, Pierre-Louis Leger, Spyros Papiris, Céline Delestrain

Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine, MDPI, 2019, 8 (9), pp.1312. ⟨10.3390/jcm8091312⟩
Journal of Clinical Medicine, Vol 8, Iss 9, p 1312 (2019)
Journal of Clinical Medicine, 2019, 8 (9), pp.1312. ⟨10.3390/jcm8091312⟩

International audience; Pulmonary fibrosis (PF) is a very rare condition in children, which may be observed in specific forms of interstitial lung disease. None of the clinical, radiological, or histological descriptions used for PF diagnosis in adul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6c6d43e74bc995dc5924dbba1f0d9ba
https://hal.sorbonne-universite.fr/hal-02343397/document