These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
125 related articles for article (PubMed ID: 31266708)
1. Mild cystic fibrosis in carriers of two nonsense mutations - a case of genetic compensation response? Tümmler B J Cyst Fibros; 2019 Sep; 18(5):e51-e52. PubMed ID: 31266708 [No Abstract] [Full Text] [Related]
2. Ignoring the nonsense: a phase II trial in cystic fibrosis. Hyde SC; Gill DR Lancet; 2008 Aug; 372(9640):691-2. PubMed ID: 18722009 [No Abstract] [Full Text] [Related]
3. Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. Sermet-Gaudelus I; Boeck KD; Casimir GJ; Vermeulen F; Leal T; Mogenet A; Roussel D; Fritsch J; Hanssens L; Hirawat S; Miller NL; Constantine S; Reha A; Ajayi T; Elfring GL; Miller LL Am J Respir Crit Care Med; 2010 Nov; 182(10):1262-72. PubMed ID: 20622033 [TBL] [Abstract][Full Text] [Related]
4. A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Mittre H; Bahlous A; Leporrier N; Leymarie P Hum Mutat; 1999 Aug; 14(2):182. PubMed ID: 10425081 [No Abstract] [Full Text] [Related]
5. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Kerem E; Hirawat S; Armoni S; Yaakov Y; Shoseyov D; Cohen M; Nissim-Rafinia M; Blau H; Rivlin J; Aviram M; Elfring GL; Northcutt VJ; Miller LL; Kerem B; Wilschanski M Lancet; 2008 Aug; 372(9640):719-27. PubMed ID: 18722008 [TBL] [Abstract][Full Text] [Related]
6. Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis. Leroy C; Spelier S; Essonghe NC; Poix V; Kong R; Gizzi P; Bourban C; Amand S; Bailly C; Guilbert R; Hannebique D; Persoons P; Arhant G; Prévotat A; Reix P; Hubert D; Gérardin M; Chamaillard M; Prevarskaya N; Rebuffat S; Shapovalov G; Beekman J; Lejeune F Mol Ther; 2023 Apr; 31(4):970-985. PubMed ID: 36641622 [TBL] [Abstract][Full Text] [Related]
7. Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype. Bienvenu T; Viel M; Leroy C; Van Esch H; Fajac I; Dusser D; Hubert D Clin Genet; 2003 Sep; 64(3):266-8. PubMed ID: 12919146 [No Abstract] [Full Text] [Related]
8. A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene. Feldmann D; Laroze F; Troadec C; Clement A; Tournier G; Couderc R Hum Mutat; 2001 Apr; 17(4):356. PubMed ID: 11295849 [No Abstract] [Full Text] [Related]
9. No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations. Clancy JP; Rowe SM; Bebok Z; Aitken ML; Gibson R; Zeitlin P; Berclaz P; Moss R; Knowles MR; Oster RA; Mayer-Hamblett N; Ramsey B Am J Respir Cell Mol Biol; 2007 Jul; 37(1):57-66. PubMed ID: 17347447 [TBL] [Abstract][Full Text] [Related]
11. Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype. Yalçin E; Ozçelik U; Yilmaz E; Doğru D; Kiper N; Ferec C Turk J Pediatr; 2008; 50(4):383-5. PubMed ID: 19014055 [TBL] [Abstract][Full Text] [Related]
12. Cystic fibrosis diagnosis: new dilemmas for an old disorder. Rosenstein BJ Pediatr Pulmonol; 2002 Feb; 33(2):83-4. PubMed ID: 11802242 [No Abstract] [Full Text] [Related]
13. Type I, II, III, IV, and V cystic fibrosis transmembrane conductance regulator defects and opportunities for therapy. Choo-Kang LR; Zeitlin PL Curr Opin Pulm Med; 2000 Nov; 6(6):521-9. PubMed ID: 11100963 [TBL] [Abstract][Full Text] [Related]
14. Cystic Fibrosis mutation W19X in Tunisia: Second case identified. Lamouchi MT Tunis Med; 2020 May; 98(5):420-422. PubMed ID: 32548846 [TBL] [Abstract][Full Text] [Related]
16. Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient. Spitzer E; Staab D; Hanke R; Wahn U; Grosse R Eur Respir J; 2002 Feb; 19(2):374-6. PubMed ID: 11866018 [TBL] [Abstract][Full Text] [Related]
17. Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene. Varon R; Magdorf K; Staab D; Wahn HU; Krawczak M; Sperling K; Reis A Hum Mol Genet; 1995 Aug; 4(8):1463-4. PubMed ID: 7581390 [No Abstract] [Full Text] [Related]
18. Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Wilschanski M; Miller LL; Shoseyov D; Blau H; Rivlin J; Aviram M; Cohen M; Armoni S; Yaakov Y; Pugatsch T; Cohen-Cymberknoh M; Miller NL; Reha A; Northcutt VJ; Hirawat S; Donnelly K; Elfring GL; Ajayi T; Kerem E Eur Respir J; 2011 Jul; 38(1):59-69. PubMed ID: 21233271 [TBL] [Abstract][Full Text] [Related]
19. Is early identification of asymptomatic infants with 'mild' CFTR genotypes clinically useful? Colombo C; Costantini D; Russo MC; Claut L; Porcaro L; Nobili R Acta Paediatr; 2007 Mar; 96(3):477-9. PubMed ID: 17407489 [No Abstract] [Full Text] [Related]
20. Clinical expression of cystic fibrosis in a large cohort of Italian siblings. Terlizzi V; Lucarelli M; Salvatore D; Angioni A; Bisogno A; Braggion C; Buzzetti R; Carnovale V; Casciaro R; Castaldo G; Cirilli N; Collura M; Colombo C; Di Lullo AM; Elce A; Lucidi V; Madarena E; Padoan R; Quattrucci S; Raia V; Seia M; Termini L; Zarrilli F BMC Pulm Med; 2018 Dec; 18(1):196. PubMed ID: 30577776 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]