|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
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 type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
|
11380921 |
2001 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
|
11173845 |
2000 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
|
10574673 |
1999 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
|
9521581 |
1998 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
|
9152842 |
1997 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
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 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
|
8946174 |
1996 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
|
8956050 |
1996 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
|
7581378 |
1995 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
|
7987400 |
1994 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
|
Craniofacial dysostosis type 1
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
JACKSON-WEISS SYNDROME
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
JACKSON-WEISS SYNDROME
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
|
9385368 |
1997 |
|
JACKSON-WEISS SYNDROME
|
|
0.800 |
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 |
|
JACKSON-WEISS SYNDROME
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
|
JACKSON-WEISS SYNDROME
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
|
JACKSON-WEISS SYNDROME
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pfeiffer Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).
|
24656465 |
2014 |