| 1 | ACS1, FGFR2
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| Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.
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| Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL, Wilkie AO.
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| Hum Mutat 30(2):204-11.
2009
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| 2 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 3 | ACS1, FGFR2
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| Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.
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| Fanganiello RD, Sertié AL, Reis EM, Yeh E, Oliveira NA, Bueno DF, Kerkis I, Alonso N, Cavalheiro S, Matsushita H, Freitas R, Verjovski-Almeida S, Passos-Bueno MR.
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| Mol Med 13(7-8):422-42.
2007
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| 4 | FGFR2, ACS1
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| Inhibition or activation of Apert syndrome FGFR2 (S252W) signaling by specific glycosaminoglycans.
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| McDowell LM, Frazier BA, Studelska DR, Giljum K, Chen J, Liu J, Yu K, Ornitz DM, Zhang L.
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| J Biol Chem 281(11):6924-30. Epub 2005 Dec 22. 2006
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| 5 | FGFR2, ACS1
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| Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.
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| Goriely A, McVean GA, van Pelt AM, O'rourke AW, Wall SA, de Rooij DG, Wilkie AO.
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| Proc Natl Acad Sci U S A 102(17):6051-6. Epub 2005 Apr 19. 2005
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| 6 | ACS1, CRS7B, CRS5A, FGFR2
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| Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.
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| Ibrahimi OA, Zhang F, Eliseenkova AV, Itoh N, Linhardt RJ, Mohammadi M.
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| Hum Mol Genet 13(19):2313-24. Epub 2004 Jul 28. 2004
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| 7 | FGFR2, ACS1
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| A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficient inhibitor for the enhanced osteoblastic differentiation caused by FGFR2 activation in Apert syndrome.
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| Tanimoto Y, Yokozeki M, Hiura K, Matsumoto K, Nakanishi H, Matsumoto T, Marie PJ, Moriyama K.
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| J Biol Chem 279(44):45926-34. Epub 2004 Aug 13. 2004
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| 8 | ACS3, TWIST1, ACS1, DEL7P21
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| Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
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| Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW.
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| Hum Genet 114(1):68-76. Epub 2003 Sep 25. 2003
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| 9 | ACS1, FGFR2
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| Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
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| Ibrahimi OA, Eliseenkova AV, Plotnikov AN, Yu K, Ornitz DM, Mohammadi M.
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| Proc Natl Acad Sci U S A 98(13):7182-7. 2001
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| 10 | ACS1, FGFR2
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| Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.
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| von Gernet S, Golla A, Ehrenfels Y, Schuffenhauer S, Fairley JD.
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| Clin Genet 57(2):137-9. 2000
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| 11 | ACS1, FGFR2
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| De novo alu-element insertions in FGFR2 identify a distinct pathological basis for apert syndrome.
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| Oldridge M, et al.
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| Am J Hum Genet 64(2):446-61. 1999
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| 12 | ACS1, ACS3, CRS10, CRS11, DEL7P21, CRS5A, CRS5B, CRS6, CRS7B, CRS8, BSCGS1, CRSCNS, FGFR1, FGFR2, FGFR3, MSX2, SADDAN, TWIST1
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| Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones.
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| Hehr U, et al.
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| Mol Genet Metab 68(2):139-151. No abstract available 1999
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| 13 | ACS1, CRS5A, CRS5B, CRS6, CRS7A, CRS7B
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| Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
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| Passos-Bueno MR, et al.
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| Am J Med Genet 78 : 237-241. 1998
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| 14 | ACS1, FGFR2
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| Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
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| Passos-Bueno MR, et al.
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| J Med Genet 35 : 677-679. 1998
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| 15 | ACS1, FGFR2
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| Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
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| Anderson J, et al.
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| Hum Mol Genet 7 : 1475-1483. 1998
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| 16 | ACS1, CRS5A, FGFR2
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| Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
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| Oldridge M, et al.
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| Hum Mol Genet 6 : 137-143. 1997
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| 17 | ACS1, FGFR2
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| A de novo Alu element insertion into an intron of FGFR2 causes Apert syndrome. (abstr)
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| Oldridge M, et al.
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| Am J Hum Genet 61 : A342. 1997
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| 18 | ACS1, FGFR2
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| Exclusive paternal origin of new mutations in Apert syndrome.
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| Moloney DM, et al.
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| Nat Genet 13 : 48-53. 1996
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| 19 | FGFR2, ACS1
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| Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
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| Slaney SF, et al.
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| Am J Hum Genet 58 : 923-932. 1996
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| 20 | ACS1, CRS5A, FGFR2
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| Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
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| Wilkie AOM, et al.
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| Nat Genet 9 : 165-172. 1995
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| 21 | FGFR2, ACS1
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| Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
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| Park WJ, et al.
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| Am J Hum Genet 57 : 321-328. 1995
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