rs121918496
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
rs121918496
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Two types of missense mutations were detected in the FGFR2 gene, Cys342Trp (1205, TGC --> TGG) in a patient with sporadic Crouzon syndrome and Tyr281Cys (1021, TAC --> TGC) in two siblings (brother and sister) with familial Crouzon syndrome, respectively.
|
12186468 |
2002 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
|
11380921 |
2001 |
rs121918496
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
|
11380921 |
2001 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
|
11173845 |
2000 |
rs121918487
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
To study the effect of craniosynostosis-linked mutations in osteoblasts, we introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells.
|
10851026 |
2000 |
rs121918496
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
|
11173845 |
2000 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
|
10574673 |
1999 |
rs121918496
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
|
10574673 |
1999 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
|
9521581 |
1998 |
rs121918496
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
rs121918496
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
|
9521581 |
1998 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
|
9152842 |
1997 |
rs121918496
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
|
9152842 |
1997 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We have identified the recurrent mutation C342Y in two unrelated patients with Crouzon syndrome.
|
8650126 |
1996 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
|
8644708 |
1996 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
|
8956050 |
1996 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
|
8946174 |
1996 |
rs121918496
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
|
8946174 |
1996 |
rs121918496
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
|
8644708 |
1996 |
rs121918496
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
|
8956050 |
1996 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
|
7581378 |
1995 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
rs121918487
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |