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Items: 1 to 20 of 189

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.

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.

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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
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
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.

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.

9.

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.

PMID:
20079539
10.

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.

11.

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
12.

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
14.

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.

15.

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
16.

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
17.
18.

Molecular basis of an inherited form of incomplete achromatopsia.

Tränkner D, Jägle H, Kohl S, Apfelstedt-Sylla E, Sharpe LT, Kaupp UB, Zrenner E, Seifert R, Wissinger B.

J Neurosci. 2004 Jan 7;24(1):138-47.

19.

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
20.

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

Ahuja Y, Kohl S, Traboulsi EI.

Mol Vis. 2008 Jul 10;14:1293-7.

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