Inglehearn CF - Search Results

1

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

Ali M, Ramprasad VL, Soumittra N, Mohamed MD, Jafri H, Rashid Y, Danciger M, McKibbin M, Kumaramanickavel G, Inglehearn CF. Ali M, et al. Among authors: inglehearn cf. Mol Vis. 2008;14:1960-4. Epub 2008 Oct 30. Mol Vis. 2008. PMID: 18978954 Free PMC article.

2

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

3

A new pedigree with recessive mapping to CHED2 locus on 20p13.

Mohamed MD, McKibbin M, Jafri H, Rasheed Y, Woods CG, Inglehearn CF. Mohamed MD, et al. Among authors: inglehearn cf. Br J Ophthalmol. 2001 Jun;85(6):758-9. doi: 10.1136/bjo.85.6.754d. Br J Ophthalmol. 2001. PMID: 11439918 Free PMC article. No abstract available.

4

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

5

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB. Danciger M, et al. Among authors: inglehearn cf. Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2458-65. Invest Ophthalmol Vis Sci. 2001. PMID: 11581183

6

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

Mohamed MD, Topping NC, Jafri H, Raashed Y, McKibbin MA, Inglehearn CF. Mohamed MD, et al. Among authors: inglehearn cf. Br J Ophthalmol. 2003 Apr;87(4):473-5. doi: 10.1136/bjo.87.4.473. Br J Ophthalmol. 2003. PMID: 12642313 Free PMC article.

7

Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa.

Burt DW, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I, Downey LM, Thaung C, Bridges LR, Paton IR, Gentle M, Smith J, Hocking PM, Inglehearn CF. Burt DW, et al. Among authors: inglehearn cf. Mol Vis. 2003 Apr 30;9:164-70. Mol Vis. 2003. PMID: 12724645 Free article.

8

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

Keen TJ, Mohamed MD, McKibbin M, Rashid Y, Jafri H, Maumenee IH, Inglehearn CF. Keen TJ, et al. Among authors: inglehearn cf. Eur J Hum Genet. 2003 May;11(5):420-3. doi: 10.1038/sj.ejhg.5200981. Eur J Hum Genet. 2003. PMID: 12734549

9

Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken.

Inglehearn CF, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I, Downey LM, Thaung C, Bridges LR, Paton IR, Smith J, Petersen-Jones S, Hocking PM, Burt DW. Inglehearn CF, et al. Mol Vis. 2003 Jul 1;9:295-300. Mol Vis. 2003. PMID: 12847422 Free article.

10

Polymorphisms in OPA1 are associated with normal tension glaucoma.

Powell BL, Toomes C, Scott S, Yeung A, Marchbank NJ, Spry PG, Lumb R, Inglehearn CF, Churchill AJ. Powell BL, et al. Among authors: inglehearn cf. Mol Vis. 2003 Sep 22;9:460-4. Mol Vis. 2003. PMID: 14551537 Free article.

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