Inglehearn CF - Search Results

1

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

2

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

Inglehearn CF, Keen TJ, Bashir R, Jay M, Fitzke F, Bird AC, Crombie A, Bhattacharya S. Inglehearn CF, et al. Hum Mol Genet. 1992 Apr;1(1):41-5. doi: 10.1093/hmg/1.1.41. Hum Mol Genet. 1992. PMID: 1301135

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

A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.

al-Maghtheh M, Kim RY, Hardcastle A, Inglehearn C, Bhattacharya SS. al-Maghtheh M, et al. Hum Mol Genet. 1994 Jan;3(1):205-6. doi: 10.1093/hmg/3.1.205. Hum Mol Genet. 1994. PMID: 8162031 No abstract available.

5

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

Tarttelin EE, Plant C, Weissenbach J, Bird AC, Bhattacharya SS, Inglehearn CF. Tarttelin EE, et al. Among authors: inglehearn cf. J Med Genet. 1996 Jun;33(6):518-20. doi: 10.1136/jmg.33.6.518. J Med Genet. 1996. PMID: 8782056 Free PMC article.

6

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Inglehearn CF, Tarttelin EE, Plant C, Peacock RE, al-Maghtheh M, Vithana E, Bird AC, Bhattacharya SS. Inglehearn CF, et al. J Med Genet. 1998 Jan;35(1):1-5. doi: 10.1136/jmg.35.1.1. J Med Genet. 1998. PMID: 9475085 Free PMC article.

7

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS. Bowne SJ, et al. Among authors: inglehearn cf. Hum Mol Genet. 1999 Oct;8(11):2121-8. doi: 10.1093/hmg/8.11.2121. Hum Mol Genet. 1999. PMID: 10484783 Free PMC article.

8

A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia.

Murton NJ, Rehman I, Black GC, Inglehearn CF, Churchill AJ. Murton NJ, et al. Among authors: inglehearn cf. Hum Mutat. 2000 Jun;15(6):582. doi: 10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO;2-M. Hum Mutat. 2000. PMID: 10862096 No abstract available.

9

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.

10

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

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