Inglehearn CF - Search Results

1

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: inglehearn cf. Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-9. doi: 10.1167/iovs.11-8629. Invest Ophthalmol Vis Sci. 2012. PMID: 22427576

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

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.

al-Maghtheh M, Inglehearn CF, Keen TJ, Evans K, Moore AT, Jay M, Bird AC, Bhattacharya SS. al-Maghtheh M, et al. Among authors: inglehearn cf. Hum Mol Genet. 1994 Feb;3(2):351-4. doi: 10.1093/hmg/3.2.351. Hum Mol Genet. 1994. PMID: 8004108

4

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.

5

Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).

Inglehearn CF, Keen TJ, al-Maghtheh M, Gregory CY, Jay MR, Moore AT, Bird AC, Bhattacharya SS. Inglehearn CF, et al. Am J Hum Genet. 1994 Apr;54(4):675-80. Am J Hum Genet. 1994. PMID: 8128965 Free PMC article.

6

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

Inglehearn CF, Carter SA, Keen TJ, Lindsey J, Stephenson AM, Bashir R, al-Maghtheh M, Moore AT, Jay M, Bird AC, et al. Inglehearn CF, et al. Nat Genet. 1993 May;4(1):51-3. doi: 10.1038/ng0593-51. Nat Genet. 1993. PMID: 8513323

7

Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

Bamashmus MA, Downey LM, Inglehearn CF, Gupta SR, Mansfield DC. Bamashmus MA, et al. Among authors: inglehearn cf. Br J Ophthalmol. 2000 Apr;84(4):358-63. doi: 10.1136/bjo.84.4.358. Br J Ophthalmol. 2000. PMID: 10729291 Free PMC article.

8

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

Downey LM, Keen TJ, Roberts E, Mansfield DC, Bamashmus M, Inglehearn CF. Downey LM, et al. Among authors: inglehearn cf. Am J Hum Genet. 2001 Mar;68(3):778-81. doi: 10.1086/318790. Epub 2001 Jan 19. Am J Hum Genet. 2001. PMID: 11179025 Free PMC article.

9

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

10

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

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