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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2000 | 2 |
2005 | 2 |
2007 | 1 |
2017 | 1 |
2024 | 0 |
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6 results
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Page 1
Genetic basis of total colourblindness among the Pingelapese islanders.
Nat Genet. 2000 Jul;25(3):289-93. doi: 10.1038/77162.
Nat Genet. 2000.
PMID: 10888875
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.
Kohl S, et al.
Hum Mol Genet. 2000 Sep 1;9(14):2107-16. doi: 10.1093/hmg/9.14.2107.
Hum Mol Genet. 2000.
PMID: 10958649
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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.
Kohl S, et al.
Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269.
Eur J Hum Genet. 2005.
PMID: 15657609
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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.
Nishiguchi KM, et al.
Hum Mutat. 2005 Mar;25(3):248-58. doi: 10.1002/humu.20142.
Hum Mutat. 2005.
PMID: 15712225
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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.
Wiszniewski W, et al.
Hum Genet. 2007 May;121(3-4):433-9. doi: 10.1007/s00439-006-0314-y. Epub 2007 Jan 31.
Hum Genet. 2007.
PMID: 17265047
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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group.
Mayer AK, et al.
Hum Mutat. 2017 Nov;38(11):1579-1591. doi: 10.1002/humu.23311. Epub 2017 Aug 28.
Hum Mutat. 2017.
PMID: 28795510
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