Craniofacial Dysostosis
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
MGD |
Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis.
|
17132737 |
2006 |
Craniofacial Dysostosis
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
|
15523492 |
2005 |
Craniofacial Dysostosis
|
0.700 |
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
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
MGD |
A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.
|
15316116 |
2004 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
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
|
0.700 |
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
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
In contrast, a broad range of mutations throughout the extracellular domain of FGFR2 causes the overlapping cranial phenotypes of Pfeiffer and Crouzon syndromes and related craniofacial dysostoses.
|
11596961 |
2001 |
Craniofacial Dysostosis
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Positive controls containing FGFR2 mutations (Crouzon disease and Pfieffer syndrome) were confirmed by SSCP-PCR and sequencing.
|
11069376 |
2000 |
Craniofacial Dysostosis
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
|
10712195 |
2000 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Five patients with Crouzon syndrome of variable severity had mutations in exon 7 of FGFR2.
|
10541159 |
1999 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two of them showed a 1036T --> C mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, that was earlier reported in PS and in Crouzon syndrome.
|
9475590 |
1998 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
|
9475591 |
1998 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
CTD_human |
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
|
9152842 |
1997 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures.
|
8880573 |
1996 |
Craniofacial Dysostosis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Thus the human developmental abnormality Crouzon syndrome arises from constitutive activation of FGFR2 due to aberrant intermolecular disulfide-bonding.
|
8755573 |
1996 |
Craniofacial Dysostosis
|
0.700 |
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 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, this T to C change is identical to a mutation in FGFR2 previously reported in Crouzon syndrome, a phenotypically similar disorder but one lacking the hand and foot anomalies seen in PS.
|
7795583 |
1995 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
For example, we have identified 10 different mutations in the FGFR2 extracellular immunoglobulin III (IgIII) domain in 50% (16/32) of our Crouzon syndrome patients.
|
7493034 |
1995 |