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Similar articles for PubMed (Select 24564716)

1.
2.

Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC).

Oh KT, Vallar C.

Am J Ophthalmol. 2006 May;141(5):940-3.

PMID:
16678511
3.

BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.

Vincent A, McAlister C, Vandenhoven C, Héon E.

Eye (Lond). 2011 Jan;25(1):113-8. doi: 10.1038/eye.2010.165. Epub 2010 Nov 12.

4.

Autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Blair NP, Goldberg MF, Fishman GA, Salzano T.

Br J Ophthalmol. 1984 Jan;68(1):2-9.

5.

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD.

J Med Genet. 2009 Sep;46(9):620-5. doi: 10.1136/jmg.2008.059881. Epub 2008 Jul 8.

PMID:
18611979
6.

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC.

Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9.

PMID:
15452077
7.

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.

Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT.

Br J Ophthalmol. 2005 Feb;89(2):198-206.

8.

Autosomal dominant vitreoretinochoroidopathy.

Roider J, Fritsch E, Hoerauf H, Heide W, Laqua H.

Retina. 1997;17(4):294-9.

PMID:
9279944
9.

Autosomal dominant vitreoretinochoroidopathy with normal electrooculogram in a German family.

Kellner U, Jandeck C, Kraus H, Foerster MH.

Graefes Arch Clin Exp Ophthalmol. 1998 Feb;236(2):109-14.

PMID:
9498121
10.

RP cone-rod degeneration.

Heckenlively JR.

Trans Am Ophthalmol Soc. 1987;85:438-70.

11.

Dominant optic atrophy.

Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D.

Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Review.

12.

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI.

Prog Retin Eye Res. 2009 May;28(3):187-205. doi: 10.1016/j.preteyeres.2009.04.002. Epub 2009 Apr 16. Review.

PMID:
19375515
13.

Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina.

Goldberg MF, Lee FL, Tso MO, Fishman GA.

Ophthalmology. 1989 Dec;96(12):1736-46.

PMID:
2516300
14.

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.

Wroblewski JJ, Wells JA 3rd, Eckstein A, Fitzke F, Jubb C, Keen TJ, Inglehearn C, Bhattacharya S, Arden GB, Jay M, et al.

Ophthalmology. 1994 Jan;101(1):12-22.

PMID:
8302543
15.

Progression of retinal pigment epithelial atrophy in stargardt disease.

McBain VA, Townend J, Lois N.

Am J Ophthalmol. 2012 Jul;154(1):146-54. doi: 10.1016/j.ajo.2012.01.019. Epub 2012 Mar 30.

PMID:
22464366
16.

Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci.

Griesinger IB, Sieving PA, Ayyagari R.

Invest Ophthalmol Vis Sci. 2000 Jan;41(1):248-55.

PMID:
10634627
17.

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.

Usami S, Takahashi K, Yuge I, Ohtsuka A, Namba A, Abe S, Fransen E, Patthy L, Otting G, Van Camp G.

Eur J Hum Genet. 2003 Oct;11(10):744-8.

18.

Autosomal dominantly inherited macular dystrophy with preferential short-wavelength sensitive cone involvement.

Bresnick GH, Smith VC, Pokorny J.

Am J Ophthalmol. 1989 Sep 15;108(3):265-76.

PMID:
2789001
19.
20.

[Introduction to genetics in ophthalmology. Value of family studies].

Ohba N.

Nihon Ganka Gakkai Zasshi. 1999 Dec;103(12):851-70. Review. Japanese.

PMID:
10643291
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