×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
Biomarker
disease
CTD_human
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
BEFREE
We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G ; Ala344Gly ) that is identical to the mutation previously associated with Jackson-Weiss syndrome .
7581378
1995
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
7655462
1995
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
BEFREE
The Crouzon syndrome locus (CFD1 ) maps to the region of chromosome 10q2, with the tightest linkage to locus D10S205 (Z = 3.09, theta = 0.00). the Jackson-Weiss syndrome locus in the large Amish pedigree in which the condition was originally described was also linked to the chromosome 10q23-q26 region between loci D10S190 and D10S186.
7806229
1994
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
UNIPROT
We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described.
7874170
1994
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
BEFREE
We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described.
7874170
1994
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
7987400
1994
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Steroids in multiple sclerosis.
7989400
1994
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
UNIPROT
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
8528214
1995
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
8528214
1995
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
UNIPROT
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.
8644708
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
First-trimester prenatal diagnosis of Crouzon syndrome.
8650126
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
Biomarker
disease
GENOMICS_ENGLAND
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
8696350
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
8755573
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
UNIPROT
We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome .
9385368
1997
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
BEFREE
We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome .
9385368
1997
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
UNIPROT
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
9677057
1998
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis.
10874645
1999
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
11173845
2000
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
BEFREE
Six different mutations in the fibroblast growth factor receptor 2 have been identified in patients with the clinical diagnosis of JWS .Jabs et al.
11343323
2001
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
11781872
2002
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Screening of patients with craniosynostosis: molecular strategy.
12884424
2003
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.
15316116
2004
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
16418739
2006