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Page 1
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
Hinzpeter A, Aissat A, Sondo E, Costa C, Arous N, Gameiro C, Martin N, Tarze A, Weiss L, de Becdelièvre A, Costes B, Goossens M, Galietta LJ, Girodon E, Fanen P. Hinzpeter A, et al. Among authors: weiss l. PLoS Genet. 2010 Oct 7;6(10):e1001153. doi: 10.1371/journal.pgen.1001153. PLoS Genet. 2010. PMID: 20949073 Free PMC article.
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. Thauvin-Robinet C, et al. J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1. J Med Genet. 2013. PMID: 23378603
[Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis].
Sermet-Gaudelus I, Brouard J, Audrézet MP, Couderc Kohen L, Weiss L, Wizla N, Vrielynck S, LLerena K, Le Bourgeois M, Deneuville E, Remus N, Nguyen-Khoa T, Raynal C, Roussey M, Girodon E. Sermet-Gaudelus I, et al. Among authors: weiss l. Arch Pediatr. 2017 Apr;24(4):401-414. doi: 10.1016/j.arcped.2017.01.019. Epub 2017 Mar 1. Arch Pediatr. 2017. PMID: 28258861 French.
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I, Brouard J, Audrézet MP, Couderc Kohen L, Weiss L, Wizla N, Vrielynck S, LLerena K, Le Bourgeois M, Deneuville E, Remus N, Nguyen-Khoa T, Raynal C, Roussey M, Girodon E. Sermet-Gaudelus I, et al. Among authors: weiss l. Arch Pediatr. 2017 Dec;24(12):e1-e14. doi: 10.1016/j.arcped.2017.07.015. Epub 2017 Nov 22. Arch Pediatr. 2017. PMID: 29174009
Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children.
Orenti A, Pranke I, Faucon C, Varilh J, Hatton A, Golec A, Dehillotte C, Durieu I, Reix P, Burgel PR, Grenet D, Tasset C, Gachelin E, Perisson C, Lepissier A, Dreano E, Tondelier D, Chevalier B, Weiss L, Kiefer S, Laurans M, Chiron R, Lemonnier L, Marguet C, Jung A, Edelman A, Kerem BS, Girodon E, Taulan-Cadars M, Hinzpeter A, Kerem E, Naehrlich L, Sermet-Gaudelus I; ECFSPR Steering group. Orenti A, et al. Among authors: weiss l. J Cyst Fibros. 2023 Nov;22(6):1070-1079. doi: 10.1016/j.jcf.2023.06.005. Epub 2023 Jul 6. J Cyst Fibros. 2023. PMID: 37422433
Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription.
Dreano E, Burgel PR, Hatton A, Bouazza N, Chevalier B, Macey J, Leroy S, Durieu I, Weiss L, Grenet D, Stremler N, Ohlmann C, Reix P, Porzio M, Roux Claude P, Rémus N, Douvry B, Montcouquiol S, Cosson L, Mankikian J, Languepin J, Houdouin V, Le Clainche L, Guillaumot A, Pouradier D, Tissot A, Priou P, Mély L, Chedevergne F, Lebourgeois M, Lebihan J, Martin C, Zavala F, Da Silva J, Lemonnier L, Kelly-Aubert M, Golec A, Foucaud P, Marguet C, Edelman A, Hinzpeter A, de Carli P, Girodon E, Sermet-Gaudelus I, Pranke I; French CF Reference Network study group. Dreano E, et al. Among authors: weiss l. Eur Respir J. 2023 Oct 19;62(4):2300110. doi: 10.1183/13993003.00110-2023. Print 2023 Oct. Eur Respir J. 2023. PMID: 37696564
The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.
Burgel PR, Sermet-Gaudelus I, Girodon E, Durieu I, Houdouin V, Audousset C, Macey J, Grenet D, Porzio M, Murris-Espin M, Reix P, Baravalle M, Belleguic C, Mely L, Verhille J, Weiss L, Reynaud-Gaubert M, Mittaine M, Hamidfar R, Ramel S, Cosson L, Douvry B, Danner-Boucher I, Foucaud P, Roy C, Burnet E, Raynal C, Audrezet MP, Da Silva J, Martin C; French Cystic Fibrosis Reference Network study group. Burgel PR, et al. Among authors: weiss l. Lancet Respir Med. 2024 Nov;12(11):888-900. doi: 10.1016/S2213-2600(24)00208-X. Epub 2024 Aug 13. Lancet Respir Med. 2024. PMID: 39151434
Gathering real-world compassionate data to expand eligibility for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with N1303K or other rare CFTR variants: a viewpoint.
Burgel PR, Sermet-Gaudelus I, Girodon E, Kanaan R, Le Bihan J, Remus N, Ravoninjatovo B, Grenet D, Porzio M, Houdouin V, Le Clainche-Viala L, Durieu I, Nove-Josserand R, Languepin J, Coltey B, Guillaumot A, Audousset C, Chiron R, Weiss L, Fajac I, Da Silva J, Martin C; French CF Reference Network study group. Burgel PR, et al. Among authors: weiss l. Eur Respir J. 2024 Jan 25;63(1):2301959. doi: 10.1183/13993003.01959-2023. Print 2024 Jan. Eur Respir J. 2024. PMID: 38242629 No abstract available.
Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort.
Fletcher C, Hadchouel A, Thumerelle C, Mazenq J, Fleury M, Corvol H, Jedidi N, Benhamida M, Bessaci K, Bilhouee T, Borie R, Brouard J, Cantais A, Clement A, Coutier L, Cisterne C, Cros P, Dalphin ML, Delacourt C, Deneuville E, Dubus JC, Egron C, Epaud R, Fayon M, Forgeron A, Gachelin E, Galode F, Gertini I, Giovannini-Chami L, Gourdan P, Guiddir T, Herzog A, Houdouin V, Hullo É, Jarreau PH, Labbé G, Labouret G, Ladaurade A, Le Clainche Viala L, Marguet C, Masson-Rouchaud A, Perisson C, Rames C, Reix P, Renoux MC, Roditis L, Schweitzer C, Tatopoulos A, Trioche-Eberschweiler P, Troussier F, Vigier C, Weiss L, Legendre M, Louvrier C, de Becdelievre A, Coulomb A, Sileo C, Ducou le Pointe H, Berteloot L, Delestrain C, Nathan N. Fletcher C, et al. Among authors: weiss l. Thorax. 2024 Aug 19;79(9):842-852. doi: 10.1136/thorax-2023-221325. Thorax. 2024. PMID: 38964860
3,042 results