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Page 1
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Micol R, et al. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12. J Allergy Clin Immunol. 2011. PMID: 21665257
Multisystemic Effects of Elexacaftor-Tezacaftor-Ivacaftor in Adults with Cystic Fibrosis and Advanced Lung Disease.
Burgel PR, Paillasseur JL, Durieu I, Reynaud-Gaubert M, Hamidfar R, Murris-Espin M, Danner-Boucher I, Chiron R, Leroy S, Douvry B, Grenet D, Mely L, Ramel S, Montcouquiol S, Burnet E, Ouaalaya EH, Sogni P, Da Silva J, Martin C; Participating Investigators of the French Cystic Fibrosis Reference Network Study Group. Burgel PR, et al. Ann Am Thorac Soc. 2024 Jul;21(7):1053-1064. doi: 10.1513/AnnalsATS.202312-1065OC. Ann Am Thorac Soc. 2024. PMID: 38579175
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P. Schiff M, et al. Among authors: chevalier mc. J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. J Med Genet. 2017. PMID: 28954837 Review.
Rapid Improvement after Starting Elexacaftor-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease.
Burgel PR, Durieu I, Chiron R, Ramel S, Danner-Boucher I, Prevotat A, Grenet D, Marguet C, Reynaud-Gaubert M, Macey J, Mely L, Fanton A, Quetant S, Lemonnier L, Paillasseur JL, Da Silva J, Martin C; French Cystic Fibrosis Reference Network Study Group. Burgel PR, et al. Am J Respir Crit Care Med. 2021 Jul 1;204(1):64-73. doi: 10.1164/rccm.202011-4153OC. Am J Respir Crit Care Med. 2021. PMID: 33600738
[Dietary water intoxication: a preventable pathology].
Boussemart T, Flurin V, Chevalier MC, Godoy-Chaabane A, Bonardi JM. Boussemart T, et al. Among authors: chevalier mc. Arch Pediatr. 2006 Jul;13(7):1050-2. doi: 10.1016/j.arcped.2006.02.011. Epub 2006 Apr 3. Arch Pediatr. 2006. PMID: 16580822 French.
[Aquagenic palmoplantar keratoderma in children with cystic fibrosis].
Weil B, Chaillou E, Troussier F, Pelatan C, Chiffoleau M, Darviot E, Chevalier MC, Martin L, Giniès JL. Weil B, et al. Among authors: chevalier mc. Arch Pediatr. 2013 Dec;20(12):1306-9. doi: 10.1016/j.arcped.2013.09.023. Epub 2013 Nov 5. Arch Pediatr. 2013. PMID: 24210985 French.
18 results