JACKSON-WEISS SYNDROME
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Pfeiffer Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
|
7874169 |
1994 |
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
|
7874169 |
1994 |
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
|
7874169 |
1994 |
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
|
7795583 |
1995 |
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
|
7795583 |
1995 |
Craniosynostosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
|
9279753 |
1997 |
Apert syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
All Apert syndrome patients (n = 13) carried one of the two known point mutations in exon 7 of FGFR2 (Ser252Trp and Pro253Arg).
|
10541159 |
1999 |
Craniofacial dysostosis type 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in exon 7 of FGFR3.
|
10541159 |
1999 |
Craniofacial Dysostosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in exon 7 of FGFR3.
|
10541159 |
1999 |
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations.
|
10861678 |
2000 |
Pfeiffer Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations.
|
10861678 |
2000 |
Pfeiffer Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression.
|
10942429 |
2000 |
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression.
|
10942429 |
2000 |
JACKSON-WEISS SYNDROME
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
|
10861678 |
2000 |
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
|
10861678 |
2000 |
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.
|
10942429 |
2000 |
Craniosynostosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1).
|
10942429 |
2000 |
Pfeiffer Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues.
|
11596961 |
2001 |
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome.
|
14564217 |
2003 |
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.
|
14564217 |
2003 |
Pfeiffer Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
|
14613973 |
2004 |
Pfeiffer Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
|
14613973 |
2004 |
Kallmann Syndrome 2 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.
|
14613973 |
2004 |
Muenke Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
|
14613973 |
2004 |