MacDonald F - Search Results

1

Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH.

Akrami SM, Dunlop MG, Farrington SM, Frayling IM, MacDonald F, Harvey JF, Armour JA. Akrami SM, et al. Among authors: macdonald f. Fam Cancer. 2005;4(2):145-9. doi: 10.1007/s10689-004-6131-3. Fam Cancer. 2005. PMID: 15951966

2

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

Farrell MP, Hughes DJ, Berry IR, Gallagher DJ, Glogowski EA, Payne SJ, Kennedy MJ, Clarke RM, White SA, Muldoon CB, Macdonald F, Rehal P, Crompton D, Roring S, Duke ST, McDevitt T, Barton DE, Hodgson SV, Green AJ, Daly PA. Farrell MP, et al. Among authors: macdonald f. Fam Cancer. 2012 Sep;11(3):509-18. doi: 10.1007/s10689-012-9544-4. Fam Cancer. 2012. PMID: 22773173 Review.

3

Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.

Sutton IJ, Mocroft AP, Lindley VH, Barber RM, Bryon RJ, Winer JB, MacDonald F. Sutton IJ, et al. Among authors: macdonald f. Neuromuscul Disord. 2004 Dec;14(12):804-9. doi: 10.1016/j.nmd.2004.07.006. Neuromuscul Disord. 2004. PMID: 15564036

4

Evaluation of p62c-myc in benign and malignant gastric epithelia.

Allum WH, Newbold KM, Macdonald F, Russell B, Stokes H. Allum WH, et al. Among authors: macdonald f. Br J Cancer. 1987 Dec;56(6):785-6. doi: 10.1038/bjc.1987.288. Br J Cancer. 1987. PMID: 3325095 Free PMC article. No abstract available.

5

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: macdonald f. 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.

6

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER. Lim DH, et al. Among authors: macdonald f. Hum Mutat. 2010 Jan;31(1):E1043-51. doi: 10.1002/humu.21130. Hum Mutat. 2010. PMID: 19802896

7

Demystified ... oncogenes.

Wallis YL, Macdonald F. Wallis YL, et al. Among authors: macdonald f. Mol Pathol. 1999 Apr;52(2):55-63. doi: 10.1136/mp.52.2.55. Mol Pathol. 1999. PMID: 10474682 Free PMC article. Review. No abstract available.

8

Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer.

Porter TR, Richards FM, Houlston RS, Evans DG, Jankowski JA, Macdonald F, Norbury G, Payne SJ, Fisher SA, Tomlinson I, Maher ER. Porter TR, et al. Among authors: macdonald f. Oncogene. 2002 Mar 14;21(12):1928-33. doi: 10.1038/sj.onc.1205245. Oncogene. 2002. PMID: 11896626 Clinical Trial.

9

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. Ricketts CJ, et al. Among authors: macdonald f. Hum Mutat. 2010 Jan;31(1):41-51. doi: 10.1002/humu.21136. Hum Mutat. 2010. PMID: 19802898

10

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER. Vogt J, et al. Among authors: macdonald f. J Med Genet. 2012 Jan;49(1):21-6. doi: 10.1136/jmedgenet-2011-100378. J Med Genet. 2012. PMID: 22167768

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