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 |
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 |
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 |
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 |
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
|
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 |
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
|
0.700 |
Biomarker
|
disease |
MGD |
The missense mutation W290R in Fgfr2 causes developmental defects from aberrant IIIb and IIIc signaling.
|
20503384 |
2010 |
Craniofacial Dysostosis
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.
|
22117175 |
2012 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 mutation in Chinese patients with Crouzon syndrome.
|
22355256 |
2012 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 gene mutation in Chinese patients with Crouzon syndrome.
|
22665975 |
2012 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The involvement of the IIIb isoform of FGFR2 in the etiopathology of Crouzon syndrome is a novel finding in the craniosynostosis literature field.
|
22872266 |
2012 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel FGFR2 mutation associated with tyrosine kinase II (TK-II) domain, L617F, was found in one Crouzon syndrome patient by direct PCR sequencing.
|
23913723 |
2014 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is typically caused by heterozygous missense mutations in the third immunoglobulin domain of FGFR2.
|
25174698 |
2014 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We measured the foramen magnum area (FMA) and its sagittal and transversal components: the right, left, and mean area of the jugular foramen; the posterior fossa volume; and the cerebellar volume on preoperative millimetric computed tomography scan slices in 31 children with an FGFR2 mutation (14 with Crouzon syndrome, 11 with Apert syndrome, and 6 with Pfeiffer syndrome).
|
25886248 |
2015 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
MGD |
Mechanical properties of calvarial bones in a mouse model for craniosynostosis.
|
25966306 |
2015 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of FGFR2 and their FSIQs ranged from 82 to 102 (mean 93.5 ± 6.7).
|
27028366 |
2016 |
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features.
|
27430617 |
2016 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The craniofacial features in this case were in keeping with a diagnosis of Crouzon syndrome which was confirmed by molecular testing of the FGFR2 gene.
|
27891566 |
2016 |
Craniofacial Dysostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Minor suture fusion occurs in most patients with FGFR2-related craniofacial dysostosis.
|
28574949 |
2017 |