×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
GermlineCausalMutation
disease
ORPHANET
Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.
23593218
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
Biomarker
disease
MGD
Brain phenotypes in two FGFR2 mouse models for Apert syndrome.
20077479
2010
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
Biomarker
disease
CTD_human
Apert syndrome: report of a case with emphasis on craniofacial and genetic features.
19186770
2009
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
GeneticVariation
disease
LHGDN
A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia.
18671283
2008
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
GeneticVariation
disease
LHGDN
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.
17622301
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
GeneticVariation
disease
LHGDN
Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.
17251833
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
Biomarker
disease
CTD_human
RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis.
17694057
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
GeneticVariation
disease
LHGDN
Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.
17189145
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
GeneticVariation
disease
LHGDN
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.
16440883
2005
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
Biomarker
disease
LHGDN
A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome.
15829502
2005
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
Biomarker
disease
LHGDN
Understanding the molecular basis of Apert syndrome.
15622262
2005
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
GermlineCausalMutation
disease
ORPHANET
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.
15282208
2004
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
Biomarker
disease
LHGDN
A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
11556600
2001
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
Biomarker
disease
MGD
A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
11274405
2001
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
GeneticVariation
disease
CLINVAR
Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts.
10851026
2000
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
Biomarker
disease
CTD_human
Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.
9502772
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.880
Biomarker
disease
CTD_human
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
9002682
1997