Inglehearn CF - Search Results

1

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. Toomes C, et al. Among authors: inglehearn cf. Am J Hum Genet. 2004 Apr;74(4):721-30. doi: 10.1086/383202. Epub 2004 Mar 11. Am J Hum Genet. 2004. PMID: 15024691 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

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.

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 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

6

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

Toma NM, Ebenezer ND, Inglehearn CF, Plant C, Ficker LA, Bhattacharya SS. Toma NM, et al. Among authors: inglehearn cf. Hum Mol Genet. 1995 Dec;4(12):2395-8. doi: 10.1093/hmg/4.12.2395. Hum Mol Genet. 1995. PMID: 8634716

7

Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.

Al-Maghtheh M, Vithana E, Tarttelin E, Jay M, Evans K, Moore T, Bhattacharya S, Inglehearn CF. Al-Maghtheh M, et al. Among authors: inglehearn cf. Am J Hum Genet. 1996 Oct;59(4):864-71. Am J Hum Genet. 1996. PMID: 8808602 Free PMC article.

8

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.

9

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.

10

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.

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