Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

Por Park, W J, Bellus, G A, Jabs, E W
Publicado em 1995

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Por Bellus, G A, Hefferon, T W, Ortiz de Luna, R I, Hecht, J T, Horton, W A, Machado, M, Kaitila, I, McIntosh, I, Francomano, C A
Publicado em 1995

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

Por Wilkin, D J, Szabo, J K, Cameron, R, Henderson, S, Bellus, G A, Mack, M L, Kaitila, I, Loughlin, J, Munnich, A, Sykes, B, Bonaventure, J, Francomano, C A
Publicado em 1998

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

Por Tavormina, P L, Bellus, G A, Webster, M K, Bamshad, M J, Fraley, A E, McIntosh, I, Szabo, J, Jiang, W, Jabs, E W, Wilcox, W R, Wasmuth, J J, Donoghue, D J, Thompson, L M, Francomano, C A
Publicado em 1999

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

Por Muenke, M., Gripp, K. W., McDonald-McGinn, D. M., Gaudenz, K., Whitaker, L. A., Bartlett, S. P., Markowitz, R. I., Robin, N. H., Nwokoro, N., Mulvihill, J. J., Losken, H. W., Mulliken, J. B., Guttmacher, A. E., Wilroy, R. S., Clarke, L. A., Hollway, G., Adès, L. C., Haan, E. A., Mulley, J. C., Cohen, M. M., Bellus, G. A., Francomano, C. A., Moloney, D. M., Wall, S. A., Wilkie, A. O. M., Zackai, E. H.
Publicado em 1997