Michaelides M - Search Results

1

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT. Cipriani V, et al. Among authors: michaelides m. Sci Rep. 2017 Aug 8;7(1):7512. doi: 10.1038/s41598-017-06387-6. Sci Rep. 2017. PMID: 28790370 Free PMC article.

2

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).

Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER. Aligianis IA, et al. Among authors: michaelides m. J Med Genet. 2002 Sep;39(9):656-60. doi: 10.1136/jmg.39.9.656. J Med Genet. 2002. PMID: 12205108 Free PMC article.

3

An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4.

Michaelides M, Johnson S, Poulson A, Bradshaw K, Bellmann C, Hunt DM, Moore AT. Michaelides M, et al. Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1657-62. doi: 10.1167/iovs.02-0941. Invest Ophthalmol Vis Sci. 2003. PMID: 12657606

4

An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.

Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT. Michaelides M, et al. Invest Ophthalmol Vis Sci. 2003 May;44(5):2178-83. doi: 10.1167/iovs.02-1094. Invest Ophthalmol Vis Sci. 2003. PMID: 12714659

5

The genetics of inherited macular dystrophies.

Michaelides M, Hunt DM, Moore AT. Michaelides M, et al. J Med Genet. 2003 Sep;40(9):641-50. doi: 10.1136/jmg.40.9.641. J Med Genet. 2003. PMID: 12960208 Free PMC article. Review.

6

The cone dysfunction syndromes.

Michaelides M, Hunt DM, Moore AT. Michaelides M, et al. Br J Ophthalmol. 2004 Feb;88(2):291-7. doi: 10.1136/bjo.2003.027102. Br J Ophthalmol. 2004. PMID: 14736794 Free PMC article. Review.

7

Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.

Michaelides M, Johnson S, Simunovic MP, Bradshaw K, Holder G, Mollon JD, Moore AT, Hunt DM. Michaelides M, et al. Eye (Lond). 2005 Jan;19(1):2-10. doi: 10.1038/sj.eye.6701391. Eye (Lond). 2005. PMID: 15094734

8

Progressive cone dystrophy associated with mutation in CNGB3.

Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM. Michaelides M, et al. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82. doi: 10.1167/iovs.03-0898. Invest Ophthalmol Vis Sci. 2004. PMID: 15161866

9

An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta.

Michaelides M, Bloch-Zupan A, Holder GE, Hunt DM, Moore AT. Michaelides M, et al. J Med Genet. 2004 Jun;41(6):468-73. doi: 10.1136/jmg.2003.015792. J Med Genet. 2004. PMID: 15173235 Free PMC article. No abstract available.

10

The genetics of strabismus.

Michaelides M, Moore AT. Michaelides M, et al. J Med Genet. 2004 Sep;41(9):641-6. doi: 10.1136/jmg.2004.021667. J Med Genet. 2004. PMID: 15342692 Free PMC article. Review.

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