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Results: 1 to 20 of 176

1.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B.

Eur J Hum Genet. 2005 Mar;13(3):302-8.

PMID:
15657609
[PubMed - indexed for MEDLINE]
Free Article
2.

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B.

Hum Mol Genet. 2000 Sep 1;9(14):2107-16.

PMID:
10958649
[PubMed - indexed for MEDLINE]
Free Article
3.

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

Wiszniewski W, Lewis RA, Lupski JR.

Hum Genet. 2007 May;121(3-4):433-9. Epub 2007 Jan 31.

PMID:
17265047
[PubMed - indexed for MEDLINE]
4.

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP.

Hum Mutat. 2005 Mar;25(3):248-58.

PMID:
15712225
[PubMed - indexed for MEDLINE]
5.

Progressive cone dystrophy associated with mutation in CNGB3.

Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM.

Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82.

PMID:
15161866
[PubMed - indexed for MEDLINE]
Free Article
6.

Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.

Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K.

Vis Neurosci. 2006 May-Aug;23(3-4):395-402.

PMID:
16961972
[PubMed - indexed for MEDLINE]
7.

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA.

Hum Mol Genet. 2002 Aug 1;11(16):1823-33.

PMID:
12140185
[PubMed - indexed for MEDLINE]
Free Article
8.

Clinical and genetic features of Hungarian achromatopsia patients.

Varsányi B, Wissinger B, Kohl S, Koeppen K, Farkas A.

Mol Vis. 2005 Nov 17;11:996-1001.

PMID:
16319819
[PubMed - indexed for MEDLINE]
Free Article
9.

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

Khan NW, Wissinger B, Kohl S, Sieving PA.

Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3864-71.

PMID:
17652762
[PubMed - indexed for MEDLINE]
Free Article
10.

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.

Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha.2009.09.008. Epub 2010 Jan 15.

PMID:
20079539
[PubMed - indexed for MEDLINE]
11.

[Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].

Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH.

Ophthalmologe. 2004 Aug;101(8):830-5. German.

PMID:
15459792
[PubMed - indexed for MEDLINE]
12.

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R.

Mol Vis. 2010 Apr 29;16:774-81.

PMID:
20454696
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B; Achromatopsia Clinical Study Group.

Hum Mutat. 2008 Oct;29(10):1228-36. doi: 10.1002/humu.20790.

PMID:
18521937
[PubMed - indexed for MEDLINE]
14.

Genetic basis of total colourblindness among the Pingelapese islanders.

Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH.

Nat Genet. 2000 Jul;25(3):289-93.

PMID:
10888875
[PubMed - indexed for MEDLINE]
15.
16.

CNGA3 mutations in hereditary cone photoreceptor disorders.

Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S.

Am J Hum Genet. 2001 Oct;69(4):722-37. Epub 2001 Aug 30.

PMID:
11536077
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Clinical features of achromatopsia in Swedish patients with defined genotypes.

Eksandh L, Kohl S, Wissinger B.

Ophthalmic Genet. 2002 Jun;23(2):109-20.

PMID:
12187429
[PubMed - indexed for MEDLINE]
18.

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B.

Nat Genet. 1998 Jul;19(3):257-9.

PMID:
9662398
[PubMed - indexed for MEDLINE]
19.

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.

Ophthalmology. 2009 Oct;116(10):1984-9.e1. doi: 10.1016/j.ophtha.2009.03.053. Epub 2009 Jul 9.

PMID:
19592100
[PubMed - indexed for MEDLINE]
20.

Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels.

Bright SR, Brown TE, Varnum MD.

Mol Vis. 2005 Dec 19;11:1141-50.

PMID:
16379026
[PubMed - indexed for MEDLINE]
Free Article

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