Literature DB >> 21267011

Clinical utility gene card for: blue cone monochromatism.

Susanne Kohl1, Christian P Hamel.   

Abstract

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Year:  2011        PMID： 21267011      PMCID： PMC3110038          DOI： 10.1038/ejhg.2010.232

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  4 in total

1.  Genetic heterogeneity among blue-cone monochromats.

Authors:  J Nathans; I H Maumenee; E Zrenner; B Sadowski; L T Sharpe; R A Lewis; E Hansen; T Rosenberg; M Schwartz; J R Heckenlively
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

2.  Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

Authors:  Ulrich Kellner; Bernd Wissinger; Sabine Tippmann; Susanne Kohl; Hannelore Kraus; Michael H Foerster
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-09       Impact factor: 3.117

3.  Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.

Authors:  M Michaelides; S Johnson; M P Simunovic; K Bradshaw; G Holder; J D Mollon; A T Moore; D M Hunt
Journal:  Eye (Lond)       Date:  2005-01       Impact factor: 3.775

4.  Blue cone monochromacy: causative mutations and associated phenotypes.

Authors:  Jessica C Gardner; Michel Michaelides; Graham E Holder; Naheed Kanuga; Tom R Webb; John D Mollon; Anthony T Moore; Alison J Hardcastle
Journal:  Mol Vis       Date:  2009-05-01       Impact factor: 2.367
  4 in total
  1 in total

1.  Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure.

Authors:  Carlos Llorente-La-Orden; Bárbara Burgos-Blasco; Blanca Domingo-Gordo; Elena Hernández-García; Rosario Gómez-de-Liaño
Journal:  J Pediatr Genet       Date:  2020-08-31
  1 in total

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