McMahon R - Search Results

1

Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families.

McMahon R, Mulligan LM, Healey CS, Payne SJ, Ponder M, Ferguson-Smith MA, Barton DE, Ponder BA. McMahon R, et al. Hum Mol Genet. 1994 Apr;3(4):643-6. doi: 10.1093/hmg/3.4.643. Hum Mol Genet. 1994. PMID: 7915166

2

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER. Woodward ER, et al. Among authors: mcmahon r. Hum Mol Genet. 1997 Jul;6(7):1051-6. doi: 10.1093/hmg/6.7.1051. Hum Mol Genet. 1997. PMID: 9215674

3

Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus.

Hamdi I, Payne SJ, Barton DE, McMahon R, Green M, Shneerson JM, Hales CN. Hamdi I, et al. Among authors: mcmahon r. Clin Genet. 1993 Apr;43(4):186-9. doi: 10.1111/j.1399-0004.1993.tb04445.x. Clin Genet. 1993. PMID: 7687208

4

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

Rubinsztein DC, Amos W, Leggo J, Goodburn S, Ramesar RS, Old J, Bontrop R, McMahon R, Barton DE, Ferguson-Smith MA. Rubinsztein DC, et al. Among authors: mcmahon r. Nat Genet. 1994 Aug;7(4):525-30. doi: 10.1038/ng0894-525. Nat Genet. 1994. PMID: 7951324

5

Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.

Zhang Y, McMahon R, Charles SJ, Green JS, Moore AT, Barton DE, Yates JR. Zhang Y, et al. Among authors: mcmahon r. J Med Genet. 1993 Nov;30(11):923-5. doi: 10.1136/jmg.30.11.923. J Med Genet. 1993. PMID: 8301646 Free PMC article.

6

Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.

Green MR, Weaver LT, Heeley AF, Nicholson K, Kuzemko JA, Barton DE, McMahon R, Payne SJ, Austin S, Yates JR, et al. Green MR, et al. Among authors: mcmahon r. Arch Dis Child. 1993 Apr;68(4):464-7. doi: 10.1136/adc.68.4.464. Arch Dis Child. 1993. PMID: 8503667 Free PMC article.

7

Carrier detection in X linked ocular albinism using linked DNA polymorphisms.

Charles SJ, Moore AT, Zhang Y, McMahon R, Barton DE, Yates JR. Charles SJ, et al. Among authors: mcmahon r. Br J Ophthalmol. 1994 Jul;78(7):539-41. doi: 10.1136/bjo.78.7.539. Br J Ophthalmol. 1994. PMID: 7918264 Free PMC article.

8

Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis.

Gregory GA, Woolf DA, McMahon R, Maher ER, Barton DE. Gregory GA, et al. Among authors: mcmahon r. Thorax. 1997 Jan;52(1):96-7. Thorax. 1997. PMID: 9039249 Free article. No abstract available.

9

Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyposis.

Irving RM, McMahon R, Clark R, Jones NS. Irving RM, et al. Among authors: mcmahon r. Clin Otolaryngol Allied Sci. 1997 Dec;22(6):519-21. doi: 10.1046/j.1365-2273.1997.00058.x. Clin Otolaryngol Allied Sci. 1997. PMID: 9466061

10

Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only.

Hes FJ, McKee S, Taphoorn MJ, Rehal P, van Der Luijt RB, McMahon R, van Der Smagt JJ, Dow D, Zewald RA, Whittaker J, Lips CJ, MacDonald F, Pearson PL, Maher ER. Hes FJ, et al. Among authors: mcmahon r. J Med Genet. 2000 Dec;37(12):939-43. doi: 10.1136/jmg.37.12.939. J Med Genet. 2000. PMID: 11106358 Free PMC article.

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