×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
BEFREE
In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg ), was detected in the TWIST1 gene of a patient with Saethre-Chotzen syndrome .
26289989
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
BEFREE
No FGFR2 gene mutation was detected in any of the patients with Saethre-Chotzen syndrome and nonsyndromic craniosynostosis.
24656465
2014
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
Biomarker
disease
GENOMICS_ENGLAND
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
22387015
2012
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
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
0.740
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
0.740
GeneticVariation
disease
BEFREE
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome : some considerations about familial heterogeneity.
16526917
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
BEFREE
Cranial osteoblasts from an SCS patient with a Y103X mutation inducing deletion of the Twist bHLH domain showed decreased Fgfr2 mRNA levels associated with decreased expression of Runx2, bone sialoprotein (BSP) and osteocalcin (OC), markers of differentiated osteoblasts, compared with wild-type osteoblasts.
15829502
2005
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
ORPHANET
Clinical spectrum of fibroblast growth factor receptor mutations.
10425034
1999
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
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
0.740
GeneticVariation
disease
ORPHANET
Thirty-two unrelated patients with features of Saethre-Chotzen syndrome , a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2 , and FGFR3.
9585583
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
Biomarker
disease
CTD_human
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
9002682
1997
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.740
CausalMutation
disease
CLINVAR