Mansergh FC - Search Results

1

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.

Mansergh FC, Millington-Ward S, Kennan A, Kiang AS, Humphries M, Farrar GJ, Humphries P, Kenna PF. Mansergh FC, et al. Am J Hum Genet. 1999 Apr;64(4):971-85. doi: 10.1086/302344. Am J Hum Genet. 1999. PMID: 10090882 Free PMC article.

2

Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).

Kumar-Singh R, Farrar GJ, Mansergh F, Kenna P, Bhattacharya S, Gal A, Humphries P. Kumar-Singh R, et al. Hum Mol Genet. 1993 Jul;2(7):875-8. doi: 10.1093/hmg/2.7.875. Hum Mol Genet. 1993. PMID: 8364569

3

Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.

Kenna P, Mansergh F, Millington-Ward S, Erven A, Kumar-Singh R, Brennan R, Farrar GJ, Humphries P. Kenna P, et al. Br J Ophthalmol. 1997 Mar;81(3):207-13. doi: 10.1136/bjo.81.3.207. Br J Ophthalmol. 1997. PMID: 9135384 Free PMC article.

4

Strategems in vitro for gene therapies directed to dominant mutations.

Millington-Ward S, O'Neill B, Tuohy G, Al-Jandal N, Kiang AS, Kenna PF, Palfi A, Hayden P, Mansergh F, Kennan A, Humphries P, Farrar GJ. Millington-Ward S, et al. Hum Mol Genet. 1997 Sep;6(9):1415-26. doi: 10.1093/hmg/6.9.1415. Hum Mol Genet. 1997. PMID: 9285777

5

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P. Humphries MM, et al. Among authors: mansergh fc. Hum Mutat. 1993;2(1):37-42. doi: 10.1002/humu.1380020107. Hum Mutat. 1993. PMID: 7682883

6

Three sequence polymorphisms in the PDC gene.

Mansergh FC, Jordan SA, Farrar GJ, Kumar-Singh R, Gal A, Bhattacharya S, Humphries P. Mansergh FC, et al. Hum Mol Genet. 1994 Nov;3(11):2077. Hum Mol Genet. 1994. PMID: 7874132 No abstract available.

7

Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.

Mansergh FC, Kenna PF, Rudolph G, Meitinger T, Farrar GJ, Kumar-Singh R, Scorer J, Hally AM, Mynett-Johnson L, Humphries MM. Mansergh FC, et al. J Med Genet. 1995 Nov;32(11):855-8. doi: 10.1136/jmg.32.11.855. J Med Genet. 1995. PMID: 8592326 Free PMC article.

8

Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.

Humphries MM, Mansergh FC, Kiang AS, Jordan SA, Sheils DM, Martin MJ, Farrar GJ, Kenna PF, Young MM, Humphries P. Humphries MM, et al. Among authors: mansergh fc. Hum Mutat. 1996;8(1):57-63. doi: 10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M. Hum Mutat. 1996. PMID: 8807337

9

Novel mutations in the TIGR gene in early and late onset open angle glaucoma.

Mansergh FC, Kenna PF, Ayuso C, Kiang AS, Humphries P, Farrar GJ. Mansergh FC, et al. Hum Mutat. 1998;11(3):244-51. doi: 10.1002/(SICI)1098-1004(1998)11:3<244::AID-HUMU10>3.0.CO;2-Z. Hum Mutat. 1998. PMID: 9521427

10

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.

Kennan AM, Mansergh FC, Fingert JH, Clark T, Ayuso C, Kenna PF, Humphries P, Farrar GJ. Kennan AM, et al. Among authors: mansergh fc. J Med Genet. 1998 Nov;35(11):957-60. doi: 10.1136/jmg.35.11.957. J Med Genet. 1998. PMID: 9832047 Free PMC article.

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