Inglehearn CF - Search Results

1

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T. Vithana EN, et al. Among authors: inglehearn cf. Nat Genet. 2006 Jul;38(7):755-7. doi: 10.1038/ng1824. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767101

2

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.

Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL, Gregory CY, Butler R, Ebenezer N, Hunt DM, Bhattacharya S. Evans K, et al. Nat Genet. 1994 Feb;6(2):210-3. doi: 10.1038/ng0294-210. Nat Genet. 1994. PMID: 8162077

3

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. Wells J, et al. Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213. Nat Genet. 1993. PMID: 8485576

4

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

5

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.

6

Segregation of a PRKCG mutation in two RP11 families.

Al-Maghtheh M, Vithana EN, Inglehearn CF, Moore T, Bird AC, Bhattacharya SS. Al-Maghtheh M, et al. Among authors: inglehearn cf. Am J Hum Genet. 1998 May;62(5):1248-52. doi: 10.1086/301819. Am J Hum Genet. 1998. PMID: 9545390 Free PMC article. No abstract available.

7

RP11 is the second most common locus for dominant retinitis pigmentosa.

Vithana E, Al-Maghtheh M, Bhattacharya SS, Inglehearn CF. Vithana E, et al. Among authors: inglehearn cf. J Med Genet. 1998 Feb;35(2):174-5. doi: 10.1136/jmg.35.2.174-a. J Med Genet. 1998. PMID: 9556378 Free PMC article. No abstract available.

8

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.

Sullivan LS, Heckenlively JR, Bowne SJ, Zuo J, Hide WA, Gal A, Denton M, Inglehearn CF, Blanton SH, Daiger SP. Sullivan LS, et al. Among authors: inglehearn cf. Nat Genet. 1999 Jul;22(3):255-9. doi: 10.1038/10314. Nat Genet. 1999. PMID: 10391212 Free PMC article.

9

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.

10

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Among authors: inglehearn cf. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002

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