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Year Number of Results
1994 1
1995 2
1999 2
2010 1
2020 0
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Page 1
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.
The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome.
Cooper TK, Zhong Q, Krawczyk M, Tae HJ, Müller GA, Schubert R, Myers LA, Dietz HC, Talan MI, Briest W. Cooper TK, et al. Vet Pathol. 2010 Nov;47(6):1028-39. doi: 10.1177/0300985810374842. Epub 2010 Jun 29. Vet Pathol. 2010. PMID: 20587693 Free PMC article.
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.
Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton SH, Murray JC, McIntosh I, et al. Francomano CA, et al. Hum Mol Genet. 1994 May;3(5):787-92. doi: 10.1093/hmg/3.5.787. Hum Mol Genet. 1994. PMID: 8081365
Revised genomic organization of FBN1 and significance for regulated gene expression.
Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC. Biery NJ, et al. Genomics. 1999 Feb 15;56(1):70-7. doi: 10.1006/geno.1998.5697. Genomics. 1999. PMID: 10036187
Reversion of human glioblastoma malignancy by U1 small nuclear RNA/ribozyme targeting of scatter factor/hepatocyte growth factor and c-met expression.
Abounader R, Ranganathan S, Lal B, Fielding K, Book A, Dietz H, Burger P, Laterra J. Abounader R, et al. J Natl Cancer Inst. 1999 Sep 15;91(18):1548-56. doi: 10.1093/jnci/91.18.1548. J Natl Cancer Inst. 1999. PMID: 10491431
Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
Hecht JT, Herrera CA, Greenhaw GA, Francomano CA, Bellus GA, Blanton SH. Hecht JT, et al. 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.