McIntosh I - Search Results

1

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, et al. Hamosh A, et al. Among authors: mcintosh i. Am J Hum Genet. 1992 Aug;51(2):245-50. Am J Hum Genet. 1992. PMID: 1379413 Free PMC article.

2

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.

Jones CT, McIntosh I, Keston M, Ferguson A, Brock DJ. Jones CT, et al. Among authors: mcintosh i. Hum Mol Genet. 1992 Apr;1(1):11-7. doi: 10.1093/hmg/1.1.11. Hum Mol Genet. 1992. PMID: 1284466

3

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

Macek M Jr, Hamosh A, Kiesewetter S, McIntosh I, Rosenstein BJ, Cutting GR. Macek M Jr, et al. Among authors: mcintosh i. Hum Mutat. 1992;1(6):501-2. doi: 10.1002/humu.1380010608. Hum Mutat. 1992. PMID: 1284542 No abstract available.

4

The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.

Shrimpton AE, McIntosh I, Brock DJ. Shrimpton AE, et al. Among authors: mcintosh i. J Med Genet. 1991 May;28(5):317-21. doi: 10.1136/jmg.28.5.317. J Med Genet. 1991. PMID: 1713973 Free PMC article.

5

The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland.

McIntosh I, Curtis A, Lorenzo ML, Keston M, Gilfillan AJ, Morris G, Brock DJ. McIntosh I, et al. Hum Genet. 1990 Sep;85(4):419-20. doi: 10.1007/BF02428290. Hum Genet. 1990. PMID: 2210756

6

Cystic fibrosis: the new genetics.

Brock DJ, Shrimpton AE, Jones C, McIntosh I. Brock DJ, et al. Among authors: mcintosh i. J R Soc Med. 1991;84 Suppl 18(Suppl 18):2-6. J R Soc Med. 1991. PMID: 2033572 Free PMC article. Review. No abstract available.

7

Detection of Pseudomonas aeruginosa in sputum from cystic fibrosis patients by the polymerase chain reaction.

McIntosh I, Govan JR, Brock DJ. McIntosh I, et al. Mol Cell Probes. 1992 Aug;6(4):299-304. doi: 10.1016/0890-8508(92)90005-i. Mol Cell Probes. 1992. PMID: 1528200

8

Prenatal exclusion testing for Huntington disease using the polymerase chain reaction.

McIntosh I, Curtis A, Millan FA, Brock DJ. McIntosh I, et al. Am J Med Genet. 1989 Feb;32(2):274-6. doi: 10.1002/ajmg.1320320232. Am J Med Genet. 1989. PMID: 2564738

9

Frequency of delta F508 mutation on cystic fibrosis chromosomes in UK.

McIntosh I, Lorenzo ML, Brock DJ. McIntosh I, et al. Lancet. 1989 Dec 9;2(8676):1404-5. doi: 10.1016/s0140-6736(89)92025-4. Lancet. 1989. PMID: 2574356 No abstract available.

10

Increased energy expenditure in cystic fibrosis is associated with specific mutations.

O'Rawe A, McIntosh I, Dodge JA, Brock DJ, Redmond AO, Ward R, Macpherson AJ. O'Rawe A, et al. Among authors: mcintosh i. Clin Sci (Lond). 1992 Jan;82(1):71-6. doi: 10.1042/cs0820071. Clin Sci (Lond). 1992. PMID: 1310920

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