137 related articles for article (PubMed ID: 2930093)
1. Mild cystic fibrosis in a consanguineous family.
Knowles MR; Barnett TB; McConkie-Rosell A; Sawyer C; Kahler SG
Ann Intern Med; 1989 Apr; 110(8):599-605. PubMed ID: 2930093
[TBL] [Abstract][Full Text] [Related]
2. Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.
McConkie-Rosell A; Chen YT; Harris D; Speer MC; Pericak-Vance MA; Ding JH; Highsmith WE; Knowles M; Kahler SG
Ann Intern Med; 1989 Nov; 111(10):797-801. PubMed ID: 2817627
[TBL] [Abstract][Full Text] [Related]
3. The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
Kerem E; Corey M; Kerem BS; Rommens J; Markiewicz D; Levison H; Tsui LC; Durie P
N Engl J Med; 1990 Nov; 323(22):1517-22. PubMed ID: 2233932
[TBL] [Abstract][Full Text] [Related]
4. Energy expenditure and genotype of children with cystic fibrosis.
Tomezsko JL; Stallings VA; Kawchak DA; Goin JE; Diamond G; Scanlin TF
Pediatr Res; 1994 Apr; 35(4 Pt 1):451-60. PubMed ID: 7519343
[TBL] [Abstract][Full Text] [Related]
5. Intermediate-range sweat chloride concentration and Pseudomonas bronchitis. A cystic fibrosis variant with preservation of exocrine pancreatic function.
Stern RC; Boat TF; Abramowsky CR; Matthews LW; Wood RE; Doershuk CF
JAMA; 1978 Jun; 239(25):2676-80. PubMed ID: 650841
[TBL] [Abstract][Full Text] [Related]
6. A cystic fibrosis mutation associated with mild lung disease.
Gan KH; Veeze HJ; van den Ouweland AM; Halley DJ; Scheffer H; van der Hout A; Overbeek SE; de Jongste JC; Bakker W; Heijerman HG
N Engl J Med; 1995 Jul; 333(2):95-9. PubMed ID: 7539891
[TBL] [Abstract][Full Text] [Related]
7. [Characteristics and specificities of cystic fibrosis in adults: evolutive disease of childhood or recently diagnosed disease?].
Hubert D; Rivoal V; Desmazes-Dufeu N; Lacronique J; Maurer C; Richaud-Thiriez B; Dusser D
Rev Mal Respir; 2000 Aug; 17(3 Pt 2):749-57. PubMed ID: 11076385
[TBL] [Abstract][Full Text] [Related]
8. Application of the cilia dyskinesis test in the diagnosis of cystic fibrosis in an adolescent.
Arad I; Lafair JS; Shapira E
Isr J Med Sci; 1975 Jan; 11(1):10-4. PubMed ID: 1167850
[TBL] [Abstract][Full Text] [Related]
9. [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].
Iwańczak F; Smigiel R; Stawarski A; Pawłowicz J; Stembalska A; Mowszet K; Sasiadek M
Pol Merkur Lekarski; 2005 Feb; 18(104):205-9. PubMed ID: 17877132
[TBL] [Abstract][Full Text] [Related]
10. Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
Groman JD; Meyer ME; Wilmott RW; Zeitlin PL; Cutting GR
N Engl J Med; 2002 Aug; 347(6):401-7. PubMed ID: 12167682
[TBL] [Abstract][Full Text] [Related]
11. [Neurofibromatosis and cystic fibrosis: a case report].
Rubio-González T; Alvarez-Valiente H
Rev Neurol; 1999 Oct 1-15; 29(7):604-6. PubMed ID: 10599105
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
Curtis A; Richardson RJ; Boohene J; Jackson A; Nelson R; Bhattacharya SS
J Med Genet; 1993 Feb; 30(2):164-6. PubMed ID: 7680378
[TBL] [Abstract][Full Text] [Related]
14. Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.
Banjar H
East Mediterr Health J; 1999 Nov; 5(6):1230-5. PubMed ID: 11924117
[TBL] [Abstract][Full Text] [Related]
15. Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).
Abdul Wahab A; Al Thani G; Dawod ST; Kambouris M; Al Hamed M
J Trop Pediatr; 2001 Apr; 47(2):110-2. PubMed ID: 11336127
[TBL] [Abstract][Full Text] [Related]
16. Correlation between genotype and phenotype in patients with cystic fibrosis.
Cystic Fibrosis Genotype-Phenotype Consortium
N Engl J Med; 1993 Oct; 329(18):1308-13. PubMed ID: 8166795
[TBL] [Abstract][Full Text] [Related]
17. Linked marker haplotypes and the delta F508 mutation in adults with mild pulmonary disease and cystic fibrosis.
Santis G; Osborne L; Knight RA; Hodson ME
Lancet; 1990 Jun; 335(8703):1426-9. PubMed ID: 1972211
[TBL] [Abstract][Full Text] [Related]
18. Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
Lee M; Vecchio-Pagán B; Sharma N; Waheed A; Li X; Raraigh KS; Robbins S; Han ST; Franca AL; Pellicore MJ; Evans TA; Arcara KM; Nguyen H; Luan S; Belchis D; Hertecant J; Zabner J; Sly WS; Cutting GR
Hum Mol Genet; 2016 May; 25(10):1923-1933. PubMed ID: 26911677
[TBL] [Abstract][Full Text] [Related]
19. Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results.
Desmarquest P; Feldmann D; Tamalat A; Boule M; Fauroux B; Tournier G; Clement A
Chest; 2000 Dec; 118(6):1591-7. PubMed ID: 11115444
[TBL] [Abstract][Full Text] [Related]
20. Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis.
Kubesch P; Dörk T; Wulbrand U; Kälin N; Neumann T; Wulf B; Geerlings H; Weissbrodt H; von der Hardt H; Tümmler B
Lancet; 1993 Jan; 341(8839):189-93. PubMed ID: 7678316
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
