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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1995 | 2 |
2012 | 1 |
2014 | 1 |
2021 | 1 |
2024 | 0 |
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5 results
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Page 1
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Am J Hum Genet. 1995 Feb;56(2):368-73.
Am J Hum Genet. 1995.
PMID: 7847369
Free PMC article.
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.
Nat Genet. 1995 Jul;10(3):357-9. doi: 10.1038/ng0795-357.
Nat Genet. 1995.
PMID: 7670477
Item in Clipboard
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study.
Zhang L, Pan L, Teng Y, Liang D, Li Z, Wu L.
Zhang L, et al.
Clin Genet. 2021 Aug;100(2):219-226. doi: 10.1111/cge.13976. Epub 2021 Jun 9.
Clin Genet. 2021.
PMID: 33942288
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FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Xue Y, Sun A, Mekikian PB, Martin J, Rimoin DL, Lachman RS, Wilcox WR.
Xue Y, et al.
Mol Genet Genomic Med. 2014 Nov;2(6):497-503. doi: 10.1002/mgg3.96. Epub 2014 Aug 5.
Mol Genet Genomic Med. 2014.
PMID: 25614871
Free PMC article.
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Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET.
Placone J, Hristova K.
Placone J, et al.
PLoS One. 2012;7(10):e46678. doi: 10.1371/journal.pone.0046678. Epub 2012 Oct 9.
PLoS One. 2012.
PMID: 23056398
Free PMC article.
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