Healy E - Search Results

1

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13.

Healy E, Holmes SC, Belgaid CE, Stephenson AM, Mclean WH, Rees JL, Munro CS. Healy E, et al. Hum Mol Genet. 1995 Dec;4(12):2399-402. doi: 10.1093/hmg/4.12.2399. Hum Mol Genet. 1995. PMID: 8634717

2

Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129.

Carter SA, Bryce SD, Munro CS, Healy E, Bashir R, Weissenbach J, LeBlanc-Straceski J, Kucherlapati R, Stephenson A, Rees JL, et al. Carter SA, et al. Among authors: healy e. Genomics. 1994 Nov 15;24(2):378-82. doi: 10.1006/geno.1994.1632. Genomics. 1994. PMID: 7698764

3

Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity.

Birch-Machin MA, Healy E, Turner R, Haldane F, Belgaid CE, Darlington S, Stephenson AM, Munro C, Messenger AG, Rees JL. Birch-Machin MA, et al. Among authors: healy e. Br J Dermatol. 1997 Sep;137(3):339-43. Br J Dermatol. 1997. PMID: 9349326

4

A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.

Korge BP, Healy E, Munro CS, Pünter C, Birch-Machin M, Holmes SC, Darlington S, Hamm H, Messenger AG, Rees JL, Traupe H. Korge BP, et al. Among authors: healy e. J Invest Dermatol. 1998 Nov;111(5):896-9. doi: 10.1046/j.1523-1747.1998.00362.x. J Invest Dermatol. 1998. PMID: 9804356 Free article. Review.

5

Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families.

Korge BP, Healy E, Traupe H, Pünter C, Mauch C, Hamm H, Birch-Machin MA, Belgaid CE, Stephenson AM, Holmes SC, Darlington S, Messenger AG, Rees JL, Munro CS. Korge BP, et al. Among authors: healy e. Exp Dermatol. 1999 Aug;8(4):310-2. Exp Dermatol. 1999. PMID: 10439241 No abstract available.

6

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

Ruiz-Perez VL, Carter SA, Healy E, Todd C, Rees JL, Steijlen PM, Carmichael AJ, Lewis HM, Hohl D, Itin P, Vahlquist A, Gobello T, Mazzanti C, Reggazini R, Nagy G, Munro CS, Strachan T. Ruiz-Perez VL, et al. Among authors: healy e. Hum Mol Genet. 1999 Sep;8(9):1621-30. doi: 10.1093/hmg/8.9.1621. Hum Mol Genet. 1999. PMID: 10441324

7

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, Birch-MacHin M, Rees JL, Messenger AG, Holmes SC, Parry DA, Munro CS. Korge BP, et al. Among authors: healy e. J Invest Dermatol. 1999 Oct;113(4):607-12. doi: 10.1046/j.1523-1747.1999.00722.x. J Invest Dermatol. 1999. PMID: 10504448 Free article.

8

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.

Smith FJ, Fisher MP, Healy E, Rees JL, Bonifas JM, Epstein EH Jr, Tan EM, Uitto J, McLean WH. Smith FJ, et al. Among authors: healy e. Exp Dermatol. 2000 Jun;9(3):170-7. doi: 10.1034/j.1600-0625.2000.009003170.x. Exp Dermatol. 2000. PMID: 10839714

9

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation.

Flanagan N, Healy E, Ray A, Philips S, Todd C, Jackson IJ, Birch-Machin MA, Rees JL. Flanagan N, et al. Among authors: healy e. Hum Mol Genet. 2000 Oct 12;9(17):2531-7. doi: 10.1093/hmg/9.17.2531. Hum Mol Genet. 2000. PMID: 11030758 Free article.

10

Functional variation of MC1R alleles from red-haired individuals.

Healy E, Jordan SA, Budd PS, Suffolk R, Rees JL, Jackson IJ. Healy E, et al. Hum Mol Genet. 2001 Oct 1;10(21):2397-402. doi: 10.1093/hmg/10.21.2397. Hum Mol Genet. 2001. PMID: 11689486

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