Acrocephalosyndactylia
|
0.880 |
Biomarker
|
disease |
LHGDN |
A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
|
11556600 |
2001 |
Acrocephalosyndactylia
|
0.880 |
Biomarker
|
disease |
CTD_human |
Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.
|
9502772 |
1998 |
Acrocephalosyndactylia
|
0.880 |
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 |
Acrocephalosyndactylia
|
0.880 |
GeneticVariation
|
disease |
LHGDN |
A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia.
|
18671283 |
2008 |
Acrocephalosyndactylia
|
0.880 |
GeneticVariation
|
disease |
LHGDN |
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.
|
17622301 |
2007 |
Acrocephalosyndactylia
|
0.880 |
GeneticVariation
|
disease |
LHGDN |
Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.
|
17189145 |
2006 |
Acrocephalosyndactylia
|
0.880 |
Biomarker
|
disease |
MGD |
A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
|
11274405 |
2001 |
Acrocephalosyndactylia
|
0.880 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.
|
23593218 |
2013 |
Acrocephalosyndactylia
|
0.880 |
Biomarker
|
disease |
CTD_human |
Apert syndrome: report of a case with emphasis on craniofacial and genetic features.
|
19186770 |
2009 |
Acrocephalosyndactylia
|
0.880 |
Biomarker
|
disease |
CTD_human |
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
|
9002682 |
1997 |
Acrocephalosyndactylia
|
0.880 |
GermlineCausalMutation
|
disease |
ORPHANET |
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.
|
15282208 |
2004 |
Acrocephalosyndactylia
|
0.880 |
GeneticVariation
|
disease |
LHGDN |
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.
|
16440883 |
2005 |
Acrocephalosyndactylia
|
0.880 |
GeneticVariation
|
disease |
LHGDN |
Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.
|
17251833 |
2007 |
Acrocephalosyndactylia
|
0.880 |
Biomarker
|
disease |
MGD |
Brain phenotypes in two FGFR2 mouse models for Apert syndrome.
|
20077479 |
2010 |
Acrocephalosyndactylia
|
0.880 |
Biomarker
|
disease |
LHGDN |
A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome.
|
15829502 |
2005 |
Acrocephalosyndactylia
|
0.880 |
Biomarker
|
disease |
LHGDN |
Understanding the molecular basis of Apert syndrome.
|
15622262 |
2005 |
Acrocephalosyndactylia
|
0.880 |
Biomarker
|
disease |
CTD_human |
RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis.
|
17694057 |
2007 |