| 1 | CRS5A, FGFR2
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| An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.
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| Fan J, Li Y, Jia R, Fan X.
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| BMC Med Genet 19(1):91. doi: 10.1186/s12881-018-0607-8.
2018
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| 2 | CRS5A, FGFR2
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| Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.
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| Snyder-Warwick AK, Perlyn CA, Pan J, Yu K, Zhang L, Ornitz DM.
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| Proc Natl Acad Sci U S A 107(6):2515-20. Epub 2010 Feb 1.PMID: 20133659 2010
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| 3 | FGFR2, CRS5A, CRS6, CRS7B
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| Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
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| Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J.
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| Eur J Hum Genet 14(3):289-98. 2006
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| 4 | 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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| 5 | CRS5A, CRS7B, FGFR2
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| Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
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| Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW.
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| Am J Hum Genet 66(3):768-77. 2000
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| 6 | CRS5A, FGFR2
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| A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
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| Johnson D, Wall SA, Mann S, Wilkie AO.
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| Eur J Hum Genet 8(8):571-7. 2000
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| 7 | FGFR2, CRS7B, CRS5A
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| Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
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| Kress W, Collmann H, Busse M, Halliger-Keller B, Mueller CR.
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| Cytogenet Cell Genet 91(1-4):134-7. 2000
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| 8 | 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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| 9 | CRS5A, FGFR2
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| Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
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| Schaefer F, Anderson C, Can B, Say B.
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| Am J Med Genet 75(3):252-5. 1998
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| 10 | 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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| 11 | CRS5A, CRS6, CRS7B, BSCGS1, FGFR2
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| Mutation detection in FGFR2 craniosynostosis syndromes.
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| Hollway GE, et al.
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| Hum Genet 99 : 251-255. 1997
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| 12 | 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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| 13 | CRS5A, FGFR2
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| A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
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| Steinberger D, Collmann H, Schmalenberger B, Muller U.
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| J Med Genet 34(5):420-2. 1997
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| 14 | CRS5A, CRS6, CRS7B, FGFR2
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| FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes : evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
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| Meyers GA, et al.
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| Am J Hum Genet 58 : 491-498. 1996
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| 15 | CRS5A, FGFR2
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| Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR) 2 and FGFR2/Neu chimeras.
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| Galvin BD, et al.
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| Proc Natl Acad Sci U S A 93 : 7894-7899. 1996
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| 16 | CRS5A, FGFR2
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| Crouzon syndrome : previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
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| Steinberger D, et al.
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| Hum Mutat 8 : 386-390. 1996
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| 17 | CRS5A, CRS6, CRS7B, BSCGS1, FGFR2
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| FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
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| Steinberger D, Reinhartz T, Unsold R, Muller U.
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| Am J Med Genet 66 : 81-86. 1996
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| 18 | 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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| 19 | FGFR2, CRS5A, CRS7B
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| Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
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| Rutland P, et al.
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| Nat Genet 9 : 173-176. 1995
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| 20 | CRS5A, FGFR2
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| No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.
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| Ma HW, et al.
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| Hum Genet 96 : 731-735. 1995
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| 21 | CRS5A, FGFR2
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| Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.
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| Li X, et al.
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| Nat Genet 9 : 232-233. 1995
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| 22 | CRS5A, FGFR2
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| Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
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| Oldridge M, et al.
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| Hum Mol Genet 4 : 1077-1082. 1995
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| 23 | FGFR2, CRS5A
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| Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome.
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| Steinberger D, et al.
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| Hum Genet 96 : 113-115. 1995
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| 24 | FGFR2, CRS5A, CRS6
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| Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
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| Park WJ, et al.
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| Hum Mol Genet 4 : 1229-1233. 1995
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| 25 | CRS5A, FGFR2
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| A Crouzon syndrome synonymous mutation activates a 5' splice site withinthe IIIC exon of the FGFR2 gene.
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| Del Gatto F, et al.
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| Genomics 27 : 558-559. 1995
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| 26 | FGFR2, CRS5A, CRS6
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| Crouzon syndrome : mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
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| Gorry MC, et al.
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| Hum Mol Genet 4 : 1387-1390. 1995
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| 27 | CRS5A
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| A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.
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| Preston RA, et al.
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| Nat Genet 7 : 149-153. 1994
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| 28 | CRS5A
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| Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.
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| Li X, et al.
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| Genomics 22 : 418-424. 1994
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| 29 | FGFR2, CRS5A
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| Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
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| Reardon W, et al.
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| Nat Genet 8 : 98-103. 1994
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| 30 | FGFR2, CRS5A, CRS6
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| Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
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| Jabs EW, et al.
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| Nat Genet 8 : 275-279. 1994
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