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Page 1
Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors.
Sidali S, Borie R, Sicre de Fontbrune F, El Husseini K, Rautou PE, Lainey E, Goria O, Crestani B, Cadranel J, Cottin V, Bunel V, Dumortier J, Jacquemin E, Reboux N, Hirschi S, Bourdin A, Meszaros M, Dharancy S, Hilaire S, Mallet V, Reynaud-Gaubert M, Terriou L, Gottrand F, Abou Chahla W, Khan JE, Carrier P, Saliba F, Rubbia-Brandt L, Aubert JD, Elkrief L, de Lédinghen V, Abergel A, Olivier T, Houssel P, Jouneau S, Wemeau L, Bergeron A, Leblanc T, Ollivier-Hourmand I, Nguyen Khac E, Morisse-Pradier H, Ba I, Boileau C, Roudot-Thoraval F, Vilgrain V, Bureau C, Nunes H, Naccache JM, Durand F, Francoz C, Roulot D, Valla D, Paradis V, Kannengiesser C, Plessier A. Sidali S, et al. Among authors: lainey e. Hepatology. 2024 Jun 1;79(6):1365-1380. doi: 10.1097/HEP.0000000000000667. Epub 2023 Nov 6. Hepatology. 2024. PMID: 37934624
Pneumocystosis revealing immunodeficiency secondary to TERC mutation.
Borie R, Kannengiesser C, Sicre de Fontbrune F, Boutboul D, Tabeze L, Brunet-Possenti F, Lainey E, Debray MP, Cazes A, Crestani B. Borie R, et al. Among authors: lainey e. Eur Respir J. 2017 Nov 22;50(5):1701443. doi: 10.1183/13993003.01443-2017. Print 2017 Nov. Eur Respir J. 2017. PMID: 29167304 Free article. No abstract available.
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.
Borie R, Kannengiesser C, Gouya L, Dupin C, Amselem S, Ba I, Bunel V, Bonniaud P, Bouvry D, Cazes A, Clement A, Debray MP, Dieude P, Epaud R, Fanen P, Lainey E, Legendre M, Plessier A, Sicre de Fontbrune F, Wemeau-Stervinou L, Cottin V, Nathan N, Crestani B. Borie R, et al. Among authors: lainey e. Orphanet J Rare Dis. 2019 Dec 3;14(1):280. doi: 10.1186/s13023-019-1256-5. Orphanet J Rare Dis. 2019. PMID: 31796085 Free PMC article.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Benyelles M, O'Donohue MF, Kermasson L, Lainey E, Borie R, Lagresle-Peyrou C, Nunes H, Cazelles C, Fourrage C, Ollivier E, Marcais A, Gamez AS, Morice-Picard F, Caillaud D, Pottier N, Ménard C, Ba I, Fernandes A, Crestani B, de Villartay JP, Gleizes PE, Callebaut I, Kannengiesser C, Revy P. Benyelles M, et al. Among authors: lainey e. Hum Mol Genet. 2020 Apr 15;29(6):907-922. doi: 10.1093/hmg/ddaa011. Hum Mol Genet. 2020. PMID: 31985013
First heterozygous NOP10 mutation in familial pulmonary fibrosis.
Kannengiesser C, Manali ED, Revy P, Callebaut I, Ba I, Borgel A, Oudin C, Haritou A, Kolilekas L, Malagari K, Borie R, Lainey E, Boileau C, Crestani B, Papiris SA. Kannengiesser C, et al. Among authors: lainey e. Eur Respir J. 2020 Jun 11;55(6):1902465. doi: 10.1183/13993003.02465-2019. Print 2020 Jun. Eur Respir J. 2020. PMID: 32139460 Free article. No abstract available.
[Telomeropathies: A study of 15 cases].
Antoine P, Terriou L, Lefèvre G, Kannengiesser C, Sanges S, Launay D, Sobanski V, Hachulla É, Louvet A, Willemin MC, Renaut-Marceau A, Lainey E, Sicre de Fontbrune F, Farhat MM. Antoine P, et al. Among authors: lainey e. Rev Med Interne. 2022 Jan;43(1):3-8. doi: 10.1016/j.revmed.2021.09.003. Epub 2021 Oct 11. Rev Med Interne. 2022. PMID: 34649755 French.
Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: A multicentre retrospective study.
Philippot Q, Kannengiesser C, Debray MP, Gauvain C, Ba I, Vieri M, Gondouin A, Naccache JM, Reynaud-Gaubert M, Uzunhan Y, Bondue B, Israël-Biet D, Dieudé P, Fourrage C, Lainey E, Manali E, Papiris S, Wemeau L, Hirschi S, Mal H, Nunes H, Schlemmer F, Blanchard E, Beier F, Cottin V, Crestani B, Borie R; OrphaLung Network. Philippot Q, et al. Among authors: lainey e. Respirology. 2022 Mar;27(3):226-235. doi: 10.1111/resp.14195. Epub 2022 Jan 3. Respirology. 2022. PMID: 34981600
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.
Manali ED, Kannengiesser C, Borie R, Ba I, Bouros D, Markopoulou A, Antoniou K, Kolilekas L, Papaioannou AI, Tzilas V, Tzouvelekis A, Daniil Z, Fouka E, Papakosta D, Xyfteri A, Karakatsani A, Loukides S, Korbila I, Tomos IP, Konstantinidis AK, Gogali A, Steiropoulos P, Papanikolaou IC, Bazaka C, Haritou A, Vassilakopoulos T, Maniati M, Kagouridis K, Markozannes E, Bouros E, Rampiadou C, Kounti G, Trachalaki A, Dimeas I, Karampitsakos T, Lyberopoulos P, Malamadakis N, Spyropoulou S, Revy P, Lainey E, Dieudé P, Rebah K, Ménard C, Oudin C, Masson C, Plessier A, Legendre M, Nathan N, Coulomb-L'Hermine A, Clement A, Amselem S, Boileau C, Crestani B, Papiris S; Greek Group of ILD Investigators. Manali ED, et al. Among authors: lainey e. Respiration. 2022;101(6):531-543. doi: 10.1159/000520657. Epub 2022 Jan 25. Respiration. 2022. PMID: 35078193
66 results