The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
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Cites
Shiang, R., Thompson, L. M., Zhu, Y.-Z., Church, D. M., Fielder, T. J., Bocian, M., Winokur, S. T., & Wasmuth, J. J. (1994) · Cell · doi:10.1016/0092-8674(94)90302-6 · Cited by 1,329
Structural and Functional Diversity in the FGf Receptor Multigene Family
(1992) · Advances in Cancer Research · doi:10.1016/s0065-230x(08)60821-0 · Cited by 1,250
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
Wilkie, A. O. M., Slaney, S. F., Oldridge, M., Poole, M. D., Ashworth, G. J., Hockley, A. D., Hayward, R. D., David, D. J., Pulleyn, L. J., Rutland, P., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-165 · Cited by 935
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Pelet, A., Rozet, J.-M., Maroteaux, P., Merrer, M. L., & Munnich, A. (1994) · Nature · doi:10.1038/371252a0 · Cited by 928
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
Reardon, W., Winter, R. M., Rutland, P., Pulleyn, L. J., Jones, B. M., & Malcolm, S. (1994) · Nature Genetics · doi:10.1038/ng0994-98 · Cited by 758
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-269 · Cited by 614
Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y.-Z., Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., & Wasmuth, J. J. (1995) · Nature Genetics · doi:10.1038/ng0395-321 · Cited by 601
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Bellus, G. A., Hefferon, T. W., Luna, R. I. O. D., Hecht, J. T., Horton, W. A., Machado, M. A., Kaitila, I., McIntosh, I., & Francomano, C. A. (1995) · PubMed Central · Cited by 473
Self-citationJabs, E. W., Li, X., Scott, A. F., Meyers, G., Chen, W., Eccles, M., Mao, J.-I., Charnas, L. R., Jackson, C. E., & Jaye, M. (1994) · Nature Genetics · doi:10.1038/ng1194-275 · Cited by 468
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
Rutland, P., Pulleyn, L. J., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R. M., Oldridge, M., Slaney, S. F., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-173 · Cited by 451
Cited by
The Fibroblast Growth Factor signaling pathway
Ornitz, D. M., & Itoh, N. (2015) · WIREs Developmental Biology · doi:10.1002/wdev.176 · Cited by 2,050
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
White, K. E., Evans, W. E., O'Riordan, J. L. H., Speer, M. C., Econs, M. J., Lorenz-Depiereux, B., Grabowski, M., Meitinger, T., & Strom, T. M. (2000) · Nature Genetics · doi:10.1038/81664 · Cited by 1,528
Naski, M. C., Colvin, J. S., Coffin, J. D., & Ornitz, D. M. (1998) · Development · doi:10.1242/dev.125.24.4977 · Cited by 420
NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis
Tartaglia, M., & Gelb, B. D. (2005) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.6.080604.162305 · Cited by 355
FGFR activation in skeletal disorders: Too much of a good thing
Webster, M. (1997) · Trends in Genetics · doi:10.1016/s0168-9525(97)01131-1 · Cited by 317
Metadata
- Authors
- Bellus, G. A., McIntosh, I., Smith, E. A., Aylsworth, A. S., Kaitila, I., Horton, W. A., Greenhaw, G. A., Hecht, J. T., & Francomano, C. A.
- Venue
- Nature Genetics
- Published
- 1995-07
- Volume
- 10
- Issue
- 3
- Pages
- 357-359
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2055935604
- Cited by
- 473
- References
- 19
- FWCI
- 19.47
- Type
- journal article
- Language
- en
- Open access
- closed
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- This page
- CoChat. (2026). Citation check: A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. https://app.cochat.ai/papers/10.1038/ng0795-357
- The paper
- Bellus, G. A., McIntosh, I., Smith, E. A., Aylsworth, A. S., Kaitila, I., Horton, W. A., Greenhaw, G. A., Hecht, J. T., & Francomano, C. A. (1995). A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nature Genetics. https://doi.org/10.1038/ng0795-357
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
