619 related articles for article (PubMed ID: 1715308)
1. Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.
Dörk T; Wulbrand U; Richter T; Neumann T; Wolfes H; Wulf B; Maass G; Tümmler B
Hum Genet; 1991 Aug; 87(4):441-6. PubMed ID: 1715308
[TBL] [Abstract][Full Text] [Related]
2. Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.
Dörk T; Neumann T; Wulbrand U; Wulf B; Kälin N; Maass G; Krawczak M; Guillermit H; Ferec C; Horn G
Hum Genet; 1992 Feb; 88(4):417-25. PubMed ID: 1371263
[TBL] [Abstract][Full Text] [Related]
3. [Molecular-genetic analysis of certain mutations of the "cystic fibrosis gene" in Moldavia. Characteristics of molecular markers and their linkage with various mutations].
Gimbovskaia SD; Kalinin VN; Ivashchenko TE; Baranov VS
Genetika; 1994 Dec; 30(12):1616-20. PubMed ID: 7534245
[TBL] [Abstract][Full Text] [Related]
4. Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.
Eiklid K; Tranebjaerg L; Eiken HG; Pedersen JC; Michalsen H; Fluge G; Schwartz M; Nilsen BR; Bolle R; Skyberg D
Clin Genet; 1993 Jul; 44(1):12-4. PubMed ID: 7691448
[TBL] [Abstract][Full Text] [Related]
5. Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene.
Greil I; Wagner K; Eber E; Zach M; Rosenkranz W
Wien Klin Wochenschr; 1995; 107(15):464-9. PubMed ID: 7545856
[TBL] [Abstract][Full Text] [Related]
6. Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis.
Sereth H; Shoshani T; Bashan N; Kerem BS
Hum Genet; 1993 Oct; 92(3):289-95. PubMed ID: 7691712
[TBL] [Abstract][Full Text] [Related]
7. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.
Hamosh A; Trapnell BC; Zeitlin PL; Montrose-Rafizadeh C; Rosenstein BJ; Crystal RG; Cutting GR
J Clin Invest; 1991 Dec; 88(6):1880-5. PubMed ID: 1721624
[TBL] [Abstract][Full Text] [Related]
8. Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.
Dörk T; Fislage R; Neumann T; Wulf B; Tümmler B
Hum Genet; 1994 Jan; 93(1):67-73. PubMed ID: 7505767
[TBL] [Abstract][Full Text] [Related]
9. Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.
Zielenski J; Fujiwara TM; Markiewicz D; Paradis AJ; Anacleto AI; Richards B; Schwartz RH; Klinger KW; Tsui LC; Morgan K
Am J Hum Genet; 1993 Mar; 52(3):609-15. PubMed ID: 7680525
[TBL] [Abstract][Full Text] [Related]
10. Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations.
Liechti-Gallati S; Bonsall I; Malik N; Schneider V; Kraemer LG; Ruedeberg A; Moser H; Kraemer R
Pediatr Res; 1992 Aug; 32(2):175-8. PubMed ID: 1380689
[TBL] [Abstract][Full Text] [Related]
11. CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.
Will K; Reiss J; Dean M; Schlösser M; Slomski R; Schmidtke J; Stuhrmann M
J Med Genet; 1993 Oct; 30(10):833-7. PubMed ID: 7693946
[TBL] [Abstract][Full Text] [Related]
12. The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.
Nemeti M; Johnson JP; Papp Z; Louie E
Hum Genet; 1992 May; 89(2):245-6. PubMed ID: 1375186
[TBL] [Abstract][Full Text] [Related]
13. Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.
Devoto M; Ronchetto P; Fanen P; Orriols JJ; Romeo G; Goossens M; Ferrari M; Magnani C; Seia M; Cremonesi L
Am J Hum Genet; 1991 Jun; 48(6):1127-32. PubMed ID: 1709778
[TBL] [Abstract][Full Text] [Related]
14. Mutation analysis in 600 French cystic fibrosis patients.
Chevalier-Porst F; Bonardot AM; Gilly R; Chazalette JP; Mathieu M; Bozon D
J Med Genet; 1994 Jul; 31(7):541-4. PubMed ID: 7525963
[TBL] [Abstract][Full Text] [Related]
15. Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course.
Poller W; Faber JP; Scholz S; Olek K; Müller KM
Klin Wochenschr; 1991 Sep; 69(14):657-63. PubMed ID: 1749205
[TBL] [Abstract][Full Text] [Related]
16. Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.
Hamosh A; King TM; Rosenstein BJ; Corey M; Levison H; Durie P; Tsui LC; McIntosh I; Keston M; Brock DJ
Am J Hum Genet; 1992 Aug; 51(2):245-50. PubMed ID: 1379413
[TBL] [Abstract][Full Text] [Related]
17. Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.
Reiss J; Cooper DN; Bal J; Slomski R; Cutting GR; Krawczak M
Hum Genet; 1991 Aug; 87(4):457-61. PubMed ID: 1715309
[TBL] [Abstract][Full Text] [Related]
18. Genetic determination of exocrine pancreatic function in cystic fibrosis.
Kristidis P; Bozon D; Corey M; Markiewicz D; Rommens J; Tsui LC; Durie P
Am J Hum Genet; 1992 Jun; 50(6):1178-84. PubMed ID: 1376016
[TBL] [Abstract][Full Text] [Related]
19. The spectrum of CFTR mutations in south-west German cystic fibrosis patients.
Lindner M; Wolf A; Moh B; Steinbach P; Kleihauer E; Bartram CR; Kulozik AE
Hum Genet; 1992 Nov; 90(3):267-9. PubMed ID: 1283148
[TBL] [Abstract][Full Text] [Related]
20. Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients.
Kádasi L; Gécz J; Matúsek J; Krivusová T; Ferák V; Devoto M; Hruskovic J; Romeo G
Hum Genet; 1992 May; 89(3):305-6. PubMed ID: 1376297
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]