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.
22. Severe CF manifestation with anaemia and failure to thrive in a 394delTT homozygous patient. Kahre T; Teder M; Panov M; Metspalu A J Cyst Fibros; 2004 Mar; 3(1):58-60. PubMed ID: 15463888 [TBL] [Abstract][Full Text] [Related]
23. Cystic fibrosis mutations with widely variable phenotype: the D1152H example. Mussaffi H; Prais D; Mei-Zahav M; Blau H Pediatr Pulmonol; 2006 Mar; 41(3):250-4. PubMed ID: 16429425 [TBL] [Abstract][Full Text] [Related]
24. A missed cystic fibrosis diagnosis in childhood. Leonardi S; Sciuto C; La Rosa M Allergy Asthma Proc; 2005; 26(6):487-8. PubMed ID: 16541975 [TBL] [Abstract][Full Text] [Related]
25. Lumacaftor and ivacaftor in the management of patients with cystic fibrosis: current evidence and future prospects. Kuk K; Taylor-Cousar JL Ther Adv Respir Dis; 2015 Dec; 9(6):313-26. PubMed ID: 26416827 [TBL] [Abstract][Full Text] [Related]
26. Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine. Siryani I; Jama M; Rumman N; Marzouqa H; Kannan M; Lyon E; Hindiyeh M PLoS One; 2015; 10(7):e0133890. PubMed ID: 26208274 [TBL] [Abstract][Full Text] [Related]
27. [From gene to disease; from defective chloride ion transport to cystic fibrosis]. Scheffer H; van den Ouweland AM; Veeze HJ Ned Tijdschr Geneeskd; 2001 Apr; 145(14):686-7. PubMed ID: 11530706 [TBL] [Abstract][Full Text] [Related]
28. Patients with Cystic Fibrosis and a G551D or Homozygous F508del Mutation: Similar Lung Function Decline. Sawicki GS; McKone EF; Millar SJ; Pasta DJ; Konstan MW; Lubarsky B; Wagener JS Am J Respir Crit Care Med; 2017 Jun; 195(12):1673-1676. PubMed ID: 28617084 [No Abstract] [Full Text] [Related]
29. [Correlation between phenotype and genotype in a group of patients with cystic fibrosis]. Navarro H; Kolbach M; Repetto G; Guiraldes E; Harris P; Foradori A; Poggi H; Sánchez I Rev Med Chil; 2002 May; 130(5):475-81. PubMed ID: 12143267 [TBL] [Abstract][Full Text] [Related]
30. Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia. Fredj SH; Messaoud T; Templin C; des Georges M; Fattoum S; Claustres M Genet Test Mol Biomarkers; 2009 Oct; 13(5):577-81. PubMed ID: 19715466 [TBL] [Abstract][Full Text] [Related]
31. R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series. Villalona S; Glover-López G; Ortega-García JA; Moya-Quiles R; Mondejar-López P; Martínez-Romero MC; Rigabert-Montiel M; Pastor-Vivero MD; Sánchez-Solís M J Med Case Rep; 2017 Feb; 11(1):42. PubMed ID: 28196530 [TBL] [Abstract][Full Text] [Related]
32. A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island. Bienvenu T; Cartault F; Lesure F; Renouil M; Beldjord C; Kaplan JC Hum Hered; 1996; 46(3):168-71. PubMed ID: 8860012 [TBL] [Abstract][Full Text] [Related]
36. Genetics of cystic fibrosis. Lommatzsch ST; Aris R Semin Respir Crit Care Med; 2009 Oct; 30(5):531-8. PubMed ID: 19760540 [TBL] [Abstract][Full Text] [Related]
37. Towards the pharmacogenomics of cystic fibrosis. Sangiuolo F; D'Apice MR; Bruscia E; Lucidi V; Novelli G Pharmacogenomics; 2002 Jan; 3(1):75-87. PubMed ID: 11966405 [TBL] [Abstract][Full Text] [Related]
38. Modeling cystic fibrosis disease progression in patients with the rare CFTR mutation P67L. MacKenzie IER; Paquette V; Gosse F; George S; Chappe F; Chappe V J Cyst Fibros; 2017 May; 16(3):335-341. PubMed ID: 28392015 [TBL] [Abstract][Full Text] [Related]
39. A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator gene. Mittre H; Barre M; Leymarie P Hum Mutat; 1996; 8(4):392-3. PubMed ID: 8956053 [No Abstract] [Full Text] [Related]
40. [Relation between gene mutations and pancreatic exocrine function in patients with cystic fibrosis]. Radivojević D; Guć-Sćekić M; Djurisić M; Lalić T; Minić P; Kanavakis E Srp Arh Celok Lek; 2001; 129 Suppl 1():6-9. PubMed ID: 15637983 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]