Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
|
28249712 |
2017 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.
|
27139183 |
2016 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Muenke syndrome: An international multicenter natural history study.
|
26740388 |
2016 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
|
25809207 |
2016 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation.
|
26818779 |
2016 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.
|
25606676 |
2015 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
|
25691418 |
2015 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
|
25614871 |
2014 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
|
24476948 |
2014 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Studying the calvaria and skull base, we observed abnormal cartilage and premature fusion of the synchondroses leading to modifications of foramen magnum shape and size in Fgfr3(Y367C/+) mice, ACH and FGFR3-related craniosynostoses patients.
|
24419316 |
2014 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis.
|
24864036 |
2014 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SNP Microarray was otherwise normal and the patient did not have common mutations in FGFR2, FGFR3, or TWIST associated with craniosynostosis.
|
23239640 |
2013 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene.
|
23378035 |
2013 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3.
|
23437153 |
2013 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening ruled out FBN1, TGFBR2, and the known craniosynostosis hotspots (FGFR2 exon 8 and exon 10 and FGFR3 exon 6) as the cause.
|
22871183 |
2013 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
|
22045636 |
2012 |
Craniosynostosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
|
23044018 |
2012 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
|
23149434 |
2012 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
|
23165795 |
2012 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation.
|
22872265 |
2012 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Achondroplasia with synostosis of multiple sutures.
|
21739570 |
2011 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The A391E mutation enhances FGFR3 activation in the absence of ligand.
|
21536014 |
2011 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of FGFR3 also result in other forms of skeletal dysplasia and craniosynostosis.
|
22145492 |
2011 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a novel mutation in exon 8 (IIIc) of FGFR3, p.Ala334Thr, in a young boy with mild craniosynostosis.
|
22038757 |
2011 |