Francomano CA - Search Results

1

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M. Bellus GA, et al. Among authors: francomano ca. Nat Genet. 1996 Oct;14(2):174-6. doi: 10.1038/ng1096-174. Nat Genet. 1996. PMID: 8841188

2

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA. Bellus GA, et al. Among authors: francomano ca. Nat Genet. 1995 Jul;10(3):357-9. doi: 10.1038/ng0795-357. Nat Genet. 1995. PMID: 7670477

3

Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.

Bellus GA, McIntosh I, Szabo J, Aylsworth A, Kaitila I, Francomano CA. Bellus GA, et al. Among authors: francomano ca. Ann N Y Acad Sci. 1996 Jun 8;785:182-7. doi: 10.1111/j.1749-6632.1996.tb56257.x. Ann N Y Acad Sci. 1996. PMID: 8702125 Review. No abstract available.

4

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: francomano ca. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.

5

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

Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA. Wilkin DJ, et al. Among authors: francomano ca. Am J Hum Genet. 1998 Sep;63(3):711-6. doi: 10.1086/302000. Am J Hum Genet. 1998. PMID: 9718331 Free PMC article.

6

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.

Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Bellus GA, et al. Among authors: francomano ca. Am J Med Genet. 1999 Jul 2;85(1):53-65. Am J Med Genet. 1999. PMID: 10377013

7

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. Among authors: francomano ca. Am J Hum Genet. 1995 Feb;56(2):368-73. Am J Hum Genet. 1995. PMID: 7847369 Free PMC article.

8

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.

Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, Muenke M, Wilkie AO. Moloney DM, et al. Among authors: francomano ca. Lancet. 1997 Apr 12;349(9058):1059-62. doi: 10.1016/s0140-6736(96)09082-4. Lancet. 1997. PMID: 9107244

9

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: francomano ca. Am J Hum Genet. 1999 Mar;64(3):722-31. doi: 10.1086/302275. Am J Hum Genet. 1999. PMID: 10053006 Free PMC article.

10

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: francomano ca. 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.

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