Similar articles for PMID: 7506096

Year	Number of Results
1990	2
1991	7
1992	15
1993	14
1994	14
1995	7
1996	1
1997	2
1998	5
1999	1
2000	5
2001	2
2003	1
2004	2
2006	2
2008	3
2009	3
2010	1
2011	1
2013	2
2014	5
2015	7
2016	8
2017	1
2019	1
2024	0

1

A mutation in CFTR produces different phenotypes depending on chromosomal background.

Kiesewetter S, Macek M Jr, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cashman SM, Tsui LC, Mickle J, et al. Kiesewetter S, et al. Nat Genet. 1993 Nov;5(3):274-8. doi: 10.1038/ng1193-274. Nat Genet. 1993. PMID: 7506096

2

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C. Cutting GR, et al. Am J Hum Genet. 1992 Jun;50(6):1185-94. Am J Hum Genet. 1992. PMID: 1376017 Free PMC article.

3

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

Chillón M, Dörk T, Casals T, Giménez J, Fonknechten N, Will K, Ramos D, Nunes V, Estivill X. Chillón M, et al. Am J Hum Genet. 1995 Mar;56(3):623-9. Am J Hum Genet. 1995. PMID: 7534040 Free PMC article.

4

Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.

Friedman KJ, Heim RA, Knowles MR, Silverman LM. Friedman KJ, et al. Hum Mutat. 1997;10(2):108-15. doi: 10.1002/(SICI)1098-1004(1997)10:2<108::AID-HUMU3>3.0.CO;2-G. Hum Mutat. 1997. PMID: 9259194

5

Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.

Bernardino AL, Ferri A, Passos-Bueno MR, Kim CE, Nakaie CM, Gomes CE, Damaceno N, Zatz M. Bernardino AL, et al. Genet Test. 2000;4(1):69-74. doi: 10.1089/109065700316516. Genet Test. 2000. PMID: 10794365

6

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Strong TV, Smit LS, Nasr S, Wood DL, Cole JL, Iannuzzi MC, Stern RC, Collins FS. Strong TV, et al. Hum Mutat. 1992;1(5):380-7. doi: 10.1002/humu.1380010506. Hum Mutat. 1992. PMID: 1284540 Free article.

7

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

Will K, Dörk T, Stuhrmann M, Meitinger T, Bertele-Harms R, Tümmler B, Schmidtke J. Will K, et al. J Clin Invest. 1994 Apr;93(4):1852-9. doi: 10.1172/JCI117172. J Clin Invest. 1994. PMID: 7512993 Free PMC article.

8

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

Mutesa L, Azad AK, Verhaeghe C, Segers K, Vanbellinghen JF, Ngendahayo L, Rusingiza EK, Mutwa PR, Rulisa S, Koulischer L, Cassiman JJ, Cuppens H, Bours V. Mutesa L, et al. Chest. 2009 May;135(5):1233-1242. doi: 10.1378/chest.08-2246. Epub 2008 Nov 18. Chest. 2009. PMID: 19017867 Free article.

9

Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.

Deufel A, Deufel T, Golla A, Achatz H, Bertele-Harms R, Roscher AA, Meitinger T. Deufel A, et al. Hum Mutat. 1994;3(1):64-6. doi: 10.1002/humu.1380030111. Hum Mutat. 1994. PMID: 7509683 No abstract available.

10

Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.

Bienvenu T, Hubert D, Fonknechten N, Dusser D, Kaplan JC, Beldjord C. Bienvenu T, et al. Hum Genet. 1994 Jul;94(1):65-8. doi: 10.1007/BF02272843. Hum Genet. 1994. PMID: 7518409

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