Inglehearn CF - Search Results

1

The natural history of OPA1-related autosomal dominant optic atrophy.

Cohn AC, Toomes C, Hewitt AW, Kearns LS, Inglehearn CF, Craig JE, Mackey DA. Cohn AC, et al. Among authors: inglehearn cf. Br J Ophthalmol. 2008 Oct;92(10):1333-6. doi: 10.1136/bjo.2007.134726. Epub 2008 Jul 24. Br J Ophthalmol. 2008. PMID: 18653586

2

Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.

Moore AT, Fitzke FW, Kemp CM, Arden GB, Keen TJ, Inglehearn CF, Bhattacharya SS, Bird AC. Moore AT, et al. Among authors: inglehearn cf. Br J Ophthalmol. 1992 Aug;76(8):465-9. doi: 10.1136/bjo.76.8.465. Br J Ophthalmol. 1992. PMID: 1390527 Free PMC article.

3

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

Evans K, al-Maghtheh M, Fitzke FW, Moore AT, Jay M, Inglehearn CF, Arden GB, Bird AC. Evans K, et al. Among authors: inglehearn cf. Br J Ophthalmol. 1995 Sep;79(9):841-6. doi: 10.1136/bjo.79.9.841. Br J Ophthalmol. 1995. PMID: 7488604 Free PMC article.

4

Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.

Wroblewski JJ, Wells JA 3rd, Eckstein A, Fitzke FW, Jubb C, Keen TJ, Inglehearn CF, Bhattacharya SS, Arden GB, Jay MR, et al. Wroblewski JJ, et al. Among authors: inglehearn cf. Br J Ophthalmol. 1994 Nov;78(11):831-6. doi: 10.1136/bjo.78.11.831. Br J Ophthalmol. 1994. PMID: 7848979 Free PMC article.

5

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

Kim RY, Fitzke FW, Moore AT, Jay M, Inglehearn C, Arden GB, Bhattacharya SS, Bird AC. Kim RY, et al. Br J Ophthalmol. 1995 Jan;79(1):23-7. doi: 10.1136/bjo.79.1.23. Br J Ophthalmol. 1995. PMID: 7880785 Free PMC article.

6

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.

Moore AT, Fitzke F, Jay M, Arden GB, Inglehearn CF, Keen TJ, Bhattacharya SS, Bird AC. Moore AT, et al. Among authors: inglehearn cf. Br J Ophthalmol. 1993 Aug;77(8):473-9. doi: 10.1136/bjo.77.8.473. Br J Ophthalmol. 1993. PMID: 8025041 Free PMC article.

7

Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.

Owens SL, Fitzke FW, Inglehearn CF, Jay M, Keen TJ, Arden GB, Bhattacharya SS, Bird AC. Owens SL, et al. Among authors: inglehearn cf. Br J Ophthalmol. 1994 May;78(5):353-8. doi: 10.1136/bjo.78.5.353. Br J Ophthalmol. 1994. PMID: 8025068 Free PMC article.

8

A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype.

Murton NJ, French L, Toomes C, Joseph SS, Rehman I, Hopkins BL, Inglehearn CF, Churchill AJ. Murton NJ, et al. Among authors: inglehearn cf. Cytogenet Cell Genet. 2001;92(1-2):97-102. doi: 10.1159/000056876. Cytogenet Cell Genet. 2001. PMID: 11306804

9

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ. Toomes C, et al. Among authors: inglehearn cf. Hum Mol Genet. 2001 Jun 15;10(13):1369-78. doi: 10.1093/hmg/10.13.1369. Hum Mol Genet. 2001. PMID: 11440989

10

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. McKie AB, et al. Among authors: inglehearn cf. Hum Mol Genet. 2001 Jul 15;10(15):1555-62. doi: 10.1093/hmg/10.15.1555. Hum Mol Genet. 2001. PMID: 11468273

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