The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
Clinical diagnosis of the Usher syndromes
Abstract
The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium. © 1994 Wiley‐Liss, Inc.
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Citations
Cites
Standard for clinical electroretinography
Marmor, M. F., Arden, G. B., Nilsson, S.-E., Zrenner, E., & International Standardization Committee (1989) · Documenta Ophthalmologica · doi:10.1007/bf00154486 · Cited by 806
Usher syndrome: Definition and estimate of prevalence from two high-risk populations
Boughman, J. A., Vernon, M., & Shaver, K. A. (1983) · Journal of Chronic Diseases · doi:10.1016/0021-9681(83)90147-9 · Cited by 386
Visual Membranes: Specificity of Fatty Acid Precursors for the Electrical Response to Illumination
Wheeler, T. G., Benolken, R. M., & Anderson, R. E. (1975) · Science · doi:10.1126/science.1145197 · Cited by 369
Membrane Fatty Acids Associated with the Electrical Response in Visual Excitation
Benolken, R. M., Anderson, R. E., & Wheeler, T. G. (1973) · Science · doi:10.1126/science.182.4118.1253 · Cited by 321
Localization of two genes for usher syndrome type I to chromosome 11
Smith, R. J. H., Lee, E. C., Kimberling, W. J., Daiger, S. P., Pelias, M. Z., Keats, B. J. B., Jay, M., Bird, A., Reardon, W., Guest, M., et al. (1992) · Genomics · doi:10.1016/s0888-7543(05)80122-3 · Cited by 219
Self-citationLocalization of Usher syndrome type II to chromosome 1q
Kimberling, W. J., Weston, M. D., Möller, C., Davenport, S. L. H., Shugart, Y. Y., Priluck, I. A., Martini, A., Milani, M., & Smith, R. J. (1990) · Genomics · doi:10.1016/0888-7543(90)90546-7 · Cited by 218
Self-citationUsher's syndrome—deafness and progressive blindness
Vernon, M. (1969) · Journal of Chronic Diseases · doi:10.1016/0021-9681(69)90055-1 · Cited by 196
Linkage of usher syndrome type I gene (USH1B) to the long arm of chromosome 11
Kimberling, W. J., Möller, C. G., Davenport, S., Priluck, I. A., Beighton, P. H., Greenberg, J., Reardon, W., Weston, M. D., Kenyon, J. B., Grunkemeyer, J. A., et al. (1992) · Genomics · doi:10.1016/s0888-7543(05)80121-1 · Cited by 183
Self-citationUsher's Syndrome: Ophthalmic and Neuro-otologic Findings Suggesting Genetic Heterogeneity
Fishman, G. A., Kumar, A., Joseph, M. E., Torok, N., & Anderson, R. J. (1983) · Archives of Ophthalmology · doi:10.1001/archopht.1983.01040020369005 · Cited by 148
A gene for usher syndrome type I (USH1A) maps to chromosome 14q
Kaplan, J., Gerber, S., Bonneau, D., Rozet, J., Delrieu, O., Briard, M., Dollfus, H., Ghazi, I., Dufier, J., Frézal, J., et al. (1992) · Genomics · doi:10.1016/s0888-7543(05)80120-x · Cited by 145
Cited by
Defective myosin VIIA gene responsible for Usher syndrome type IB
Well, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., et al. (1995) · Nature · doi:10.1038/374060a0 · Cited by 1,068
Self-citationComprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Sloan-Heggen, C. M., Bierer, A. O., Shearer, A. E., Kolbe, D. L., Nishimura, C. J., Frees, K. L., Ephraim, S. S., Shibata, S. B., Booth, K. T., Campbell, C. A., et al. (2016) · Human Genetics · doi:10.1007/s00439-016-1648-8 · Cited by 559
Self-citationBork, J. M., Peters, L. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z. M., Ness, S. L., Polomeno, R., Ramesh, A., Schloss, M., Srisailpathy, C. R. S., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/316954 · Cited by 555
Self-citationBitner-Glindzicz, M., Lindley, K. J., Rutland, P., Blaydon, D., Smith, V. V., Milla, P. J., Hussain, K., Furth-Lavi, J., Cosgrove, K. E., Shepherd, R. M., et al. (2000) · Nature Genetics · doi:10.1038/79178 · Cited by 324
The Physiology of Mechanoelectrical Transduction Channels in Hearing
Fettiplace, R., & Kim, K. X. (2014) · Physiological Reviews · doi:10.1152/physrev.00038.2013 · Cited by 313
Metadata
- Authors
- Smith, R. J. H., Berlin, C. I., Hejtmancik, J. F., Keats, B. J. B., Kimberling, W. J., Lewis, R. A., Möller, C. G., Pelias, M. Z., & Tranebjærǵ, L.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1994-03
- Volume
- 50
- Issue
- 1
- Pages
- 32-38
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2019832339
- Cited by
- 345
- References
- 19
- FWCI
- 3.19
- Type
- journal article
- Language
- en
- Open access
- closed
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- Smith, R. J. H., Berlin, C. I., Hejtmancik, J. F., Keats, B. J. B., Kimberling, W. J., Lewis, R. A., Möller, C. G., Pelias, M. Z., & Tranebjærǵ, L. (1994). Clinical diagnosis of the Usher syndromes. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.1320500107
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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