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Page 1
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: coulomb l hermine a. Respiration. 2022;101(6):531-543. doi: 10.1159/000520657. Epub 2022 Jan 25. Respiration. 2022. PMID: 35078193
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. 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
Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood.
Manali ED, Legendre M, Nathan N, Kannengiesser C, Coulomb-L'Hermine A, Tsiligiannis T, Tomos P, Griese M, Borie R, Clement A, Amselem S, Crestani B, Papiris SA. Manali ED, et al. ERJ Open Res. 2019 Jul 22;5(3):00066-2019. doi: 10.1183/23120541.00066-2019. eCollection 2019 Jul. ERJ Open Res. 2019. PMID: 31360696 Free PMC article.
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: coulomb l hermine a. 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.
The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network.
Cassibba J, Epaud R, Berteloot L, Aberbache S, Bitton L, Fletcher C, Fleury M, Delestrain C, Corvol H, de Becdelièvre A, Borie R, Legendre M, Coulomb l'Herminé A, Louvrier C, Lustremant C, Sari Hassoun M, Sileo C, Hadchouel A, Nathan N. Cassibba J, et al. Among authors: coulomb l hermine a. Pediatr Pulmonol. 2024 Feb;59(2):417-425. doi: 10.1002/ppul.26765. Epub 2023 Nov 22. Pediatr Pulmonol. 2024. PMID: 37991126
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.
Lepelley A, Martin-Niclós MJ, Le Bihan M, Marsh JA, Uggenti C, Rice GI, Bondet V, Duffy D, Hertzog J, Rehwinkel J, Amselem S, Boulisfane-El Khalifi S, Brennan M, Carter E, Chatenoud L, Chhun S, Coulomb l'Hermine A, Depp M, Legendre M, Mackenzie KJ, Marey J, McDougall C, McKenzie KJ, Molina TJ, Neven B, Seabra L, Thumerelle C, Wislez M, Nathan N, Manel N, Crow YJ, Frémond ML. Lepelley A, et al. J Exp Med. 2020 Nov 2;217(11):e20200600. doi: 10.1084/jem.20200600. J Exp Med. 2020. PMID: 32725128 Free PMC article.
Childhood pulmonary Langerhans cell histiocytosis: a comprehensive clinical-histopathological and BRAFV600E mutation study from the French national cohort.
Kambouchner M, Emile JF, Copin MC, Coulomb-Lherminé A, Sabourin JC, Della Valle V, Sileo C, Ducou Le Pointe H, Bégueret H, Galmiche L, Lambilliotte A, Paraf F, Piche M, Piguet C, Rullier A, Secq V, Serre I, Bernaudin JF, Donadieu J. Kambouchner M, et al. Hum Pathol. 2019 Jul;89:51-61. doi: 10.1016/j.humpath.2019.04.005. Epub 2019 May 3. Hum Pathol. 2019. PMID: 31054893
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.
El-Daher MT, Lemale J, Bruneau J, Leveau C, Guerin F, Lambert N, Diana JS, Neven B, Sepulveda FE, Coulomb-L'Hermine A, Molina T, Picard C, Fischer A, de Saint Basile G. El-Daher MT, et al. Front Immunol. 2019 Nov 7;10:2592. doi: 10.3389/fimmu.2019.02592. eCollection 2019. Front Immunol. 2019. PMID: 31787977 Free PMC article.
Chemokine RANTES in severe pulmonary arterial hypertension.
Dorfmüller P, Zarka V, Durand-Gasselin I, Monti G, Balabanian K, Garcia G, Capron F, Coulomb-Lherminé A, Marfaing-Koka A, Simonneau G, Emilie D, Humbert M. Dorfmüller P, et al. Am J Respir Crit Care Med. 2002 Feb 15;165(4):534-9. doi: 10.1164/ajrccm.165.4.2012112. Am J Respir Crit Care Med. 2002. PMID: 11850348
65 results