Usher-Syndrom:
Boughman J. A., Vernon M., Shaver K. A.: Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis (1983) 36, 595-603
Grover S, Fishman GA, Brown J. Patterns of visual field progression in patients with retinitis pigmentosa. Ophthalmology (1998) 105:1069-1075
Kimberling W.J., Moller C.: Clinical and molecular genetics of Usher Syndrome. J Am Acad Audiol (1995) 6:63-72
Lawrence P, Fishman GA, Farber M, Derlacki D, Anderson RJ: Visual acuity loss in patients with Usher´s syndrome. Arch Opthalmol 104:1336-1339, 1986
Möller C.G., Kimberling W.J., Davenport L.H., Priluck I., White V., et al.: Usher Syndrome: An otoneurologic study. Laryngoscope (1989) 99:73-79
Otterstedde Ch. R., Spandau U., Blankenagel A., Kimberling W. J., Reißer Ch. (Manuskript eingereicht, 1999): A new clinical classification for Usher’s syndrome based on a new subtype of USH1.
Pakarinen L., Karjalainen S., Simola K.O.J., Laippala P., Kaitalo H.: Usher’s Syndrome Type 3 in Finland. Laryngoscope (1995) 105, 613-617
von Graefe A.: Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut. Von Graefes Arch Klin Exp Ophthalmol (1858) 4:250-253
Tamayo M. L., Maldonado C., Plaza S. L., Alvira G. M., Tamayo G. E. et al.: Neuroradiology and clinical aspects of Usher syndrome. Clin Genet (1996) 50, 126-132
Usher C.H.: On the inheritance of retinitis pigmentosa, with notes of cases. R Lond Ophthalmol Hosp Rep (1914) 19:130-236
van Aarem A., Cremers W. R., Benraad-van Rens M. J.: Usher syndrome. A temporal
bone report. Arch Otolaryngol Head Neck Surg (1995) 121, 916-921
Genetik:
Chaib H, Kaplan J, Gerber S et al: A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet (1997) 6:27-31
Eudy J.E., Weston M.D., et al. Mutation of a gene encoding a protein with extrcellular matrix motifs in Usher syndrome Type IIa. Science. (1998) 280:1753-1757
Gerber S., Larget-Piet D., Rozet J. M., Bonneau D., Mathieu M. et al.: Evidence for a fourth locus in Usher syndrome type I. J Med Genet (1996) 33:77-79
Hasson T., Heintzelmann M.B., Santos-Sacchi J., Corey D. P., Mooseker M. S.: Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type IB. Proc Natl Acad Sci USA (1995) 21: 9815-9819
Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, et al.. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics (1992) 14:988-994
Kimberling W.J, Weston MD, Moller C, van Aarem A et al.. Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromsome 1q41. Am J Hum Genet (1995) 56:216-223
Kimberling W.J, Moller CG, Davenport S, Priluck IA et al.. Linkage of Usher syndrome tyoe I gene (USH1B) to the long arm on chromosome 11. Genomics (1992) 14:988-994
Kimberling W.J., Möller C., Davenport S. et al.: Usher Syndrome: Clinical Findings and Gene Localization Studies. Laryngoscope (1989) 99:66-72
Pieke Dahl S., Kimberling W. J., Gorin M. B., Weston M. D., Furman J. M. R. et al.: Genetic heterogeneity of Usher syndrome type II. J Med Genet (1993) 30, 843-848
Sankila E. M., Pakarinen L., Kaariainen H., Aittomaki K., Karjalainen S. et al.: Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Am J Hum Genet. (1994) 55:15
Shinkawa H., Nadol J. B.: Histopathology of the inner ear in Usher’s syndrome as observed by light and electron microscopy. Ann Otol Rhinol Lar (1986) 87, 313-318
Smith R.J, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ et al.: Localization of two genes for Usher syndrome type I to chromosome 11. Genomics (1992) 14:995-1002
Wagenaar M., ter Rahe B., van Aarem A., Huygen P., Admiraal R. et al.: Clinical findings in obligate carriers of type I Usher syndrome. Am J Med Genet (1995), 59, 375-379
Wayne S, Der Kaloustian VM, Schloss M et al. Localization of Usher syndrome type 1D (USH1D) to chromosome 10. Hum Mol Genet. 5:1689-1692
Weil D., Blanchard S., Kaplan J., Guilford P., Gibson F. et al.: Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature (1995) 374:6517, 60-61
Katarakt:
Auffarth GU, Tetz MR, Krastel H, Blankenagel A, Völcker HE: Indikationen
und Erfolgsaussichten der Katarakt-Operation bei Patienten mit Retinitis
pigmentosa. Der Ophthalmologe (1996) 93, 168-176
Fettsäure:
WE Connors et al.: Sperm abnormalities in retinitis pigmentosa. IOVS.
38:2619-2628, 1997
Vergrößernde Sehhilfen:
Blankenagel A. Optische Rehabilitation: Vergrößernde Sehhilfen. Ophthalmologische Rehabilitation. Enke Verlag. (!992); 62-75
Blankenagel A, Jaeger W. Werner F. Randsight-Lesegerät für
Sehgeschädigte-Kabelfernsehgerät nach Genensky. Ber Dtsch Ophthalmol Ges
(1972) 71:669-671
Cochlear Implant:
Kirchhof K, Reißer Ch, Blankennagel A: Morbus Usher - Indikation zur
Cochlear-Implantation
Young N. M., Johnson J. C., Mets M. B., Hain T. C.: Cochlear implants in young
children with Usher’s syndrome. Ann Otol Rhinol Laryngol (Suppl) (1995) 166,
342-345
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