Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

65 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
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
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
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Kermasson L, Churikov D, Awad A, Smoom R, Lainey E, Touzot F, Audebert-Bellanger S, Haro S, Roger L, Costa E, Mouf M, Bottero A, Oleastro M, Abdo C, de Villartay JP, Géli V, Tzfati Y, Callebaut I, Danielian S, Soares G, Kannengiesser C, Revy P. Kermasson L, et al. Among authors: lainey e. Blood. 2022 Apr 21;139(16):2427-2440. doi: 10.1182/blood.2021010791. Blood. 2022. PMID: 35007328 Free PMC article.
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
First clinical description of a pedigree with complete NAF1 deletion.
Galtier J, Dimicoli-Salazar S, Trimouille A, Lainey E, Revy P, Bidet A, Vial Y, Forcade E, Negrier-Leibreich ML, Rivière E, Tinat J, Le Meur N, Ménard C, Pigneux A, Leguay T, Dumas PY, Ibrahima B, Kannengiesser C. Galtier J, et al. Among authors: lainey e. Leuk Lymphoma. 2023 Feb;64(2):487-490. doi: 10.1080/10428194.2022.2148377. Epub 2022 Nov 23. Leuk Lymphoma. 2023. PMID: 36416722 No abstract available.
Is telomere length a predictor of long-term survival in patients with COVID-19 pneumonia?
Bernardinello N, Crestani B, Spagnolo P, Ghanem M, Homps-Legrand M, Morer L, Goletto T, Frija-Masson J, Bancal C, Hurtado-Nedelec M, de Chaisemartin L, Debray MP, Neukirch C, Taillé C, Ba I, Kannengiesser C, Lainey E, Abels A, Vankann L, Beier F, Borie R. Bernardinello N, et al. Among authors: lainey e. Respir Med Res. 2023 Nov;84:101048. doi: 10.1016/j.resmer.2023.101048. Epub 2023 Sep 17. Respir Med Res. 2023. PMID: 37826871 No abstract available.
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. 2023 Nov 6. doi: 10.1097/HEP.0000000000000667. Online ahead of print. Hepatology. 2023. PMID: 37934624
65 results