Development of a genotyping microarray for Usher syndrome

Frans P M Cremers, William J Kimberling, Maigi Külm, Arjan P de Brouwer, Erwin van Wijk, Heleen te Brinke, Cor W R J Cremers, Lies H Hoefsloot, Sandro Banfi, Francesca Simonelli, Johannes C Fleischhauer, Wolfgang Berger, Phil M Kelley, Elene Haralambous, Maria Bitner-Glindzicz, Andrew R Webster, Zubin Saihan, Elfride De Baere, Bart P Leroy, Giuliana SilvestriGareth J McKay, Robert K Koenekoop, Jose M Millan, Thomas Rosenberg, Tarja Joensuu, Eeva-Marja Sankila, Dominique Weil, Mike D Weston, Bernd Wissinger, Hannie Kremer

Research output: Contribution to journalArticlepeer-review

88 Citations (Scopus)


Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high degree of clinical and genetic heterogeneity. Three clinical subtypes can be distinguished, based on the age of onset and severity of the hearing impairment, and the presence or absence of vestibular abnormalities. Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons.
Original languageEnglish
Pages (from-to)153-60
Number of pages8
JournalJournal of Medical Genetics
Issue number2
Publication statusPublished - Feb 2007


  • DNA
  • DNA Primers
  • Europe
  • Genetic Variation
  • Genotype
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Usher Syndromes

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