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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al. Muenke M, et al. Among authors: bellus ga. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.
Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
Hecht JT, Herrera CA, Greenhaw GA, Francomano CA, Bellus GA, Blanton SH. Hecht JT, et al. Among authors: bellus ga. Am J Med Genet. 1995 Jul 3;57(3):505-6. doi: 10.1002/ajmg.1320570333. Am J Med Genet. 1995. PMID: 7677163 No abstract available.
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Bellus GA, et al. Am J Hum Genet. 1995 Feb;56(2):368-73. Am J Hum Genet. 1995. PMID: 7847369 Free PMC article.
Achondroplasia and nail-patella syndrome: the compound phenotype.
Wright MJ, Ain MC, Clough MV, Bellus GA, Hurko O, McIntosh I. Wright MJ, et al. Among authors: bellus ga. J Med Genet. 2000 Sep;37(9):E25. doi: 10.1136/jmg.37.9.e25. J Med Genet. 2000. PMID: 10978372 Free PMC article. No abstract available.
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA. Tavormina PL, et al. Among authors: bellus ga. Am J Hum Genet. 1999 Mar;64(3):722-31. doi: 10.1086/302275. Am J Hum Genet. 1999. PMID: 10053006 Free PMC article.
48 results