Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present the case of a child with exophthalmos in whom genetic analysis identified a mutation in the fibroblast growth factor receptor 2 associated with Crouzon syndrome.
|
20163525 |
2010 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the first molecularly documented evidence of germline and somatic mosaicism for FGFR2 mutation, identified in the mother of a child with Crouzon syndrome caused by a heterozygous c.1007A>G (p.Asp336Gly) substitution.
|
20635358 |
2010 |
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
|
20489451 |
2010 |
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.
|
17251833 |
2007 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype analyses based on our cohort and previous studies further indicate that in spite of some overlap, PS and CS are preferentially accounted for by two distinct sets of FGFR2 mutations.
|
16418739 |
2006 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences between the skulls of humans with Crouzon syndrome and those of unaffected individuals.
|
17105336 |
2006 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
According to our results, sequencing analysis of IgIII domain of the FGFR2 gene can lead to a genetic diagnosis of Crouzon syndrome.
|
16470531 |
2006 |
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in different components of FGF signaling in LADD syndrome.
|
16501574 |
2006 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
|
15523492 |
2005 |
Craniofacial dysostosis type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation.
|
15389579 |
2005 |
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
|
16061565 |
2005 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of an in-frame insertion in exon 8 of FGFR2 in a child with Crouzon's syndrome, tracheal anomalies, and a tail.
|
15602758 |
2005 |
Craniofacial dysostosis type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS).
|
15282208 |
2004 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The FGFR2 missense mutation was detected in Crouzon syndrome but not in sporadic Chiari I with syringomyelia or lambdoid synostosis.
|
12186468 |
2002 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Crouzon syndrome, which is associated with fibroblast growth factor receptor (FGFR2) mutations, is characterized by premature fusion of cranial sutures.
|
12162872 |
2002 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing.
|
11380921 |
2001 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using the published primers for PCR, a patient with Crouzon syndrome was found to be homozygous for a mutation that results in a Q289P amino acid substitution in FGFR2.
|
11484208 |
2001 |
Craniofacial dysostosis type 1
|
0.800 |
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 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Positive controls containing FGFR2 mutations (Crouzon disease and Pfieffer syndrome) were confirmed by SSCP-PCR and sequencing.
|
11069376 |
2000 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report on a radiographically examined fetus (gestational age 13 weeks) with Crouzon syndrome caused by a mutation in the gene encoding the fibroblast growth factor 2 (FGFR2).
|
10706360 |
2000 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
|
11173845 |
2000 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
|
10712195 |
2000 |
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We have identified a novel missense mutation in the FGFR2 gene that predicts an Ala362Ser substitution shared by all family members affected by Crouzon syndrome and by a "clinically normal"-appearing father.
|
10574673 |
1999 |