×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
Biomarker
disease
GENOMICS_ENGLAND
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
28425981
2017
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GeneticVariation
disease
BEFREE
Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2 -related PS-variant).
27683237
2017
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
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
0.760
CausalMutation
disease
CLINVAR
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
27028366
2016
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
25271085
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.
25361936
2014
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
23348274
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
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
0.760
CausalMutation
disease
CLINVAR
Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation.
22558232
2012
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
GermlineCausalMutation
disease
ORPHANET
Nosology and classification of genetic skeletal disorders: 2010 revision.
21438135
2011
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.
20133659
2010
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.760
CausalMutation
disease
CLINVAR
Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
17693524
2007
×
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
×
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
Screening of patients with craniosynostosis: molecular strategy.
12884424
2003
×
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
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
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
CausalMutation
disease
CLINVAR
Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis.
10874645
1999
×
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
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
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
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