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Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC. Pierrache LH, et al. Among authors: pennings rj. Ophthalmology. 2016 May;123(5):1151-60. doi: 10.1016/j.ophtha.2016.01.021. Epub 2016 Feb 27. Ophthalmology. 2016. PMID: 26927203
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Cryns K, et al. Among authors: pennings rj. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007
Molecular characterization of WFS1 in patients with Wolfram syndrome.
van ven Ouweland JM, Cryns K, Pennings RJ, Walraven I, Janssen GM, Maassen JA, Veldhuijzen BF, Arntzenius AB, Lindhout D, Cremers CW, Van Camp G, Dikkeschei LD. van ven Ouweland JM, et al. Among authors: pennings rj. J Mol Diagn. 2003 May;5(2):88-95. doi: 10.1016/s1525-1578(10)60457-6. J Mol Diagn. 2003. PMID: 12707373 Free PMC article.
Usher syndrome type III can mimic other types of Usher syndrome.
Pennings RJ, Fields RR, Huygen PL, Deutman AF, Kimberling WJ, Cremers CW. Pennings RJ, et al. Ann Otol Rhinol Laryngol. 2003 Jun;112(6):525-30. doi: 10.1177/000348940311200608. Ann Otol Rhinol Laryngol. 2003. PMID: 12834121
123 results