×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
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
0.970
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
0.970
CausalMutation
disease
CLINVAR
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
27481450
2016
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
BEFREE
Beare-Stevenson syndrome (BSS) is a rare FGFR2 -associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such as Apert, Pfeiffer, and Crouzon syndromes.
25706251
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
26362256
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
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
0.970
GeneticVariation
disease
CLINVAR
A novel mutation in FGFR2.
25425289
2015
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
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
0.970
GeneticVariation
disease
CLINVAR
Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.
23754559
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
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
0.970
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
0.970
CausalMutation
disease
CLINVAR
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
23348274
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
Biomarker
disease
MGD
p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
22585574
2012
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
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
0.970
GermlineCausalMutation
disease
ORPHANET
Nosology and classification of genetic skeletal disorders: 2010 revision.
21438135
2011
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
BEFREE
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
18247426
2008
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
BEFREE
This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2 ) gene.
17449949
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
Biomarker
disease
GENOMICS_ENGLAND
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
16838304
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
Biomarker
disease
GENOMICS_ENGLAND
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
16061565
2005
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.
16158432
2005
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
BEFREE
Beare-Stevenson syndrome : Two South American patients with FGFR2 analysis.
12900900
2003
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
12884434
2003
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
CausalMutation
disease
CLINVAR
Screening of patients with craniosynostosis: molecular strategy.
12884424
2003
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.970
GeneticVariation
disease
CLINVAR
[Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases].
12575301
2002