Michaelides M - Search Results

1

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project. Taylor RL, et al. Among authors: michaelides m. JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046. JAMA Ophthalmol. 2017. PMID: 28253385 Free 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

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

Michaelides M, Aligianis IA, Holder GE, Simunovic M, Mollon JD, Maher ER, Hunt DM, Moore AT. Michaelides M, et al. Br J Ophthalmol. 2003 Nov;87(11):1317-20. doi: 10.1136/bjo.87.11.1317. Br J Ophthalmol. 2003. PMID: 14609822 Free PMC article.

7

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.

8

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. Johnson S, et al. Among authors: michaelides m. J Med Genet. 2004 Feb;41(2):e20. doi: 10.1136/jmg.2003.011437. J Med Genet. 2004. PMID: 14757870 Free PMC article. No abstract available.

9

Oligocone trichromacy: a rare and unusual cone dysfunction syndrome.

Michaelides M, Holder GE, Bradshaw K, Hunt DM, Mollon JD, Moore AT. Michaelides M, et al. Br J Ophthalmol. 2004 Apr;88(4):497-500. doi: 10.1136/bjo.2003.028142. Br J Ophthalmol. 2004. PMID: 15031164 Free PMC article.

10

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

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