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Page 1
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
Legendre M, Butt A, Borie R, Debray MP, Bouvry D, Filhol-Blin E, Desroziers T, Nau V, Copin B, Dastot-Le Moal F, Héry M, Duquesnoy P, Allou N, Bergeron A, Bermudez J, Cazes A, Chene AL, Cottin V, Crestani B, Dalphin JC, Dombret C, Doray B, Dupin C, Giraud V, Gondouin A, Gouya L, Israël-Biet D, Kannengiesser C, Le Borgne A, Leroy S, Longchampt E, Lorillon G, Nunes H, Picard C, Reynaud-Gaubert M, Traclet J, de Vuyst P, Coulomb L'Hermine A, Clement A, Amselem S, Nathan N. Legendre M, et al. Among authors: gouya l. Eur Respir J. 2020 Dec 24;56(6):2002806. doi: 10.1183/13993003.02806-2020. Print 2020 Dec. Eur Respir J. 2020. PMID: 32855221 Free article.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: gouya l. bioRxiv [Preprint]. 2023 Feb 6:2023.02.06.527353. doi: 10.1101/2023.02.06.527353. bioRxiv. 2023. Update in: Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012 PMID: 36798224 Free PMC article. Updated. Preprint.
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.
Nathan N, Giraud V, Picard C, Nunes H, Dastot-Le Moal F, Copin B, Galeron L, De Ligniville A, Kuziner N, Reynaud-Gaubert M, Valeyre D, Couderc LJ, Chinet T, Borie R, Crestani B, Simansour M, Nau V, Tissier S, Duquesnoy P, Mansour-Hendili L, Legendre M, Kannengiesser C, Coulomb-L'Hermine A, Gouya L, Amselem S, Clement A. Nathan N, et al. Among authors: gouya l. Hum Mol Genet. 2016 Apr 15;25(8):1457-67. doi: 10.1093/hmg/ddw014. Epub 2016 Jan 19. Hum Mol Genet. 2016. PMID: 26792177
Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.
Rose C, Callebaut I, Pascal L, Oudin C, Fournier M, Gouya L, Lambilliotte A, Kannengiesser C. Rose C, et al. Among authors: gouya l. Br J Haematol. 2017 Aug;178(4):648-651. doi: 10.1111/bjh.14164. Epub 2016 Jun 13. Br J Haematol. 2017. PMID: 27292130 Free article. No abstract available.
Reply.
Karim Z, Puy H, Beaumont C, Gouya L, Kannengiesser C. Karim Z, et al. Among authors: gouya l. Gastroenterology. 2016 Oct;151(4):771-2. doi: 10.1053/j.gastro.2016.09.002. Epub 2016 Sep 10. Gastroenterology. 2016. PMID: 27623323 No abstract available.
Management of suspected monogenic lung fibrosis in a specialised centre.
Borie R, Kannengiesser C, Sicre de Fontbrune F, Gouya L, Nathan N, Crestani B. Borie R, et al. Among authors: gouya l. Eur Respir Rev. 2017 Apr 26;26(144):160122. doi: 10.1183/16000617.0122-2016. Print 2017 Jun 30. Eur Respir Rev. 2017. PMID: 28446600 Free PMC article. Review.
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: gouya l. 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.
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.
Daher R, Kannengiesser C, Houamel D, Lefebvre T, Bardou-Jacquet E, Ducrot N, de Kerguenec C, Jouanolle AM, Robreau AM, Oudin C, Le Gac G, Moulouel B, Loustaud-Ratti V, Bedossa P, Valla D, Gouya L, Beaumont C, Brissot P, Puy H, Karim Z, Tchernitchko D. Daher R, et al. Among authors: gouya l. Gastroenterology. 2016 Mar;150(3):672-683.e4. doi: 10.1053/j.gastro.2015.10.049. Epub 2015 Nov 12. Gastroenterology. 2016. PMID: 26582087 Free article.
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH. Yien YY, et al. Among authors: gouya l. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E8045-E8052. doi: 10.1073/pnas.1700632114. Epub 2017 Sep 5. Proc Natl Acad Sci U S A. 2017. PMID: 28874591 Free PMC article.
148 results