Literature DB >> 21267001

Clinical utility gene card for: achromatopsia.

Susanne Kohl1, Christian P Hamel.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2011        PMID: 21267001      PMCID: PMC3110037          DOI: 10.1038/ejhg.2010.231

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


× No keyword cloud information.
  4 in total

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

Authors:  Alberta A H J Thiadens; Susanne Roosing; Rob W J Collin; Norka van Moll-Ramirez; Janneke J C van Lith-Verhoeven; Mary J van Schooneveld; Anneke I den Hollander; L Ingeborgh van den Born; Carel B Hoyng; Frans P M Cremers; Caroline C W Klaver
Journal:  Ophthalmology       Date:  2010-01-15       Impact factor: 12.079

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

Authors:  Susanne Kohl; Balazs Varsanyi; Gesine Abadin Antunes; Britta Baumann; Carel B Hoyng; Herbert Jägle; Thomas Rosenberg; Ulrich Kellner; Birgit Lorenz; Roberto Salati; Bernhard Jurklies; Agnes Farkas; Sten Andreasson; Richard G Weleber; Samuel G Jacobson; Günther Rudolph; Claudio Castellan; Helene Dollfus; Eric Legius; Mario Anastasi; Pierre Bitoun; Dorit Lev; Paul A Sieving; Francis L Munier; Eberhart Zrenner; Lindsay T Sharpe; Frans P M Cremers; Bernd Wissinger
Journal:  Eur J Hum Genet       Date:  2005-03       Impact factor: 4.246

3.  CNGA3 mutations in hereditary cone photoreceptor disorders.

Authors:  B Wissinger; D Gamer; H Jägle; R Giorda; T Marx; S Mayer; S Tippmann; M Broghammer; B Jurklies; T Rosenberg; S G Jacobson; E C Sener; S Tatlipinar; C B Hoyng; C Castellan; P Bitoun; S Andreasson; G Rudolph; U Kellner; B Lorenz; G Wolff; C Verellen-Dumoulin; M Schwartz; F P Cremers; E Apfelstedt-Sylla; E Zrenner; R Salati; L T Sharpe; S Kohl
Journal:  Am J Hum Genet       Date:  2001-08-30       Impact factor: 11.025

4.  Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

Authors:  Alberta A H J Thiadens; Niki W R Slingerland; Susanne Roosing; Mary J van Schooneveld; Janneke J C van Lith-Verhoeven; Norka van Moll-Ramirez; L Ingeborgh van den Born; Carel B Hoyng; Frans P M Cremers; Caroline C W Klaver
Journal:  Ophthalmology       Date:  2009-07-09       Impact factor: 12.079

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.