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Page 1
Systemic inflammatory syndrome in children with FARSA deficiency.
Charbit-Henrion F, Goguyer-Deschaumes R, Borensztajn K, Mirande M, Berthelet J, Rodrigues-Lima F, Khiat A, Frémond ML, Bader-Meunier B, Rodari MM, Seabra L, Rice GI, Legendre M, Drummond D, Berteloot L, Roux CJ, Boddaert N, Drabent P, Molina TJ, Lacaille F, Kossorotoff M, Cerf-Bensussan N, Parlato M, Hadchouel A. Charbit-Henrion F, et al. Among authors: legendre m. Clin Genet. 2022 May;101(5-6):552-558. doi: 10.1111/cge.14120. Epub 2022 Feb 17. Clin Genet. 2022. PMID: 35132614 Free PMC article.
COPA Syndrome as a Cause of Lupus Nephritis.
Boulisfane-El Khalifi S, Viel S, Lahoche A, Frémond ML, Lopez J, Lombard C, Dubos F, Reumaux H, Gnemmi V, Legendre M, Crow YJ, Thumerelle C, Belot A. Boulisfane-El Khalifi S, et al. Among authors: legendre m. Kidney Int Rep. 2019 Apr 28;4(8):1187-1189. doi: 10.1016/j.ekir.2019.04.014. eCollection 2019 Aug. Kidney Int Rep. 2019. PMID: 31440710 Free PMC article. No abstract available.
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage.
Frémond ML, Legendre M, Fayon M, Clement A, Filhol-Blin E, Richard N, Berdah L, Roullaud S, Rice GI, Bondet V, Duffy D, Sileo C, Ducou le Pointe H, Begueret H, Coulomb A, Neven B, Amselem S, Crow Y, Nathan N. Frémond ML, et al. Among authors: legendre m. Thorax. 2020 Jan;75(1):92-95. doi: 10.1136/thoraxjnl-2019-213892. Epub 2019 Oct 30. Thorax. 2020. PMID: 31666386
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. Among authors: legendre m. J Exp Med. 2020 Nov 2;217(11):e20200600. doi: 10.1084/jem.20200600. J Exp Med. 2020. PMID: 32725128 Free PMC article.
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S. Blanchon S, et al. Among authors: legendre m. J Med Genet. 2012 Jun;49(6):410-6. doi: 10.1136/jmedgenet-2012-100867. J Med Genet. 2012. PMID: 22693285
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S. Kott E, et al. Among authors: legendre m. Am J Hum Genet. 2013 Sep 5;93(3):561-70. doi: 10.1016/j.ajhg.2013.07.013. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993197 Free PMC article.
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M. Jeanson L, et al. Among authors: legendre m. Am J Hum Genet. 2015 Jul 2;97(1):153-62. doi: 10.1016/j.ajhg.2015.05.004. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073779 Free PMC article.
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: legendre m. 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
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE. Bustamante-Marin XM, et al. Among authors: legendre m. Am J Hum Genet. 2019 Feb 7;104(2):229-245. doi: 10.1016/j.ajhg.2018.12.009. Epub 2019 Jan 18. Am J Hum Genet. 2019. PMID: 30665704 Free PMC article.
429 results