al-Maghtheh M - Search Results

1

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. Among authors: al maghtheh m. Am J Hum Genet. 1994 Apr;54(4):675-80. Am J Hum Genet. 1994. PMID: 8128965 Free PMC article.

2

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

Evans K, al-Maghtheh M, Fitzke FW, Moore AT, Jay M, Inglehearn CF, Arden GB, Bird AC. Evans K, et al. Among authors: al maghtheh m. Br J Ophthalmol. 1995 Sep;79(9):841-6. doi: 10.1136/bjo.79.9.841. Br J Ophthalmol. 1995. PMID: 7488604 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. Hum Mol Genet. 1994 Feb;3(2):351-4. doi: 10.1093/hmg/3.2.351. Hum Mol Genet. 1994. PMID: 8004108

4

Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic.

Inglehearn C, Keen TJ, al-Maghtheh M, Bhattacharya S. Inglehearn C, et al. Among authors: al maghtheh m. Am J Hum Genet. 1994 Sep;55(3):581-2. Am J Hum Genet. 1994. PMID: 8079997 Free PMC article. No abstract available.

5

Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.

al-Maghtheh M, Inglehearn C, Lunt P, Jay M, Bird A, Bhattacharya S. al-Maghtheh M, et al. Hum Mutat. 1994;3(4):409-10. doi: 10.1002/humu.1380030417. Hum Mutat. 1994. PMID: 8081400 No abstract available.

6

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.

7

Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.

Kim RY, al-Maghtheh M, Fitzke FW, Arden GB, Jay M, Bhattacharya SS, Bird AC. Kim RY, et al. Arch Ophthalmol. 1993 Nov;111(11):1518-24. doi: 10.1001/archopht.1993.01090110084030. Arch Ophthalmol. 1993. PMID: 8240108

8

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

al-Maghtheh M, Gregory C, Inglehearn C, Hardcastle A, Bhattacharya S. al-Maghtheh M, et al. Hum Mutat. 1993;2(4):249-55. doi: 10.1002/humu.1380020403. Hum Mutat. 1993. PMID: 8401533 Review.

9

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

10

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. Am J Hum Genet. 1996 Oct;59(4):864-71. Am J Hum Genet. 1996. PMID: 8808602 Free PMC article.

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