|
rs121909627
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
|
25251565 |
2014 |
|
rs121909627
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
|
25251565 |
2014 |
|
rs121909627
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
|
24497711 |
2013 |
|
rs121909627
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
|
rs121909627
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
We report a four-generation family with an FGFR1 P252R mutation, who have typical hand and feet skeletal features of Pfeiffer syndrome without craniofacial involvement.
|
16957473 |
2006 |
|
rs121909627
|
|
|
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 |
|
rs121909627
|
|
C |
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 |
|
rs121909627
|
|
C |
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 |
|
rs121909627
|
|
|
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 |
|
rs121909627
|
|
C |
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 |
|
rs121909627
|
|
|
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 |
|
rs121909627
|
|
|
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 |
|
rs121909627
|
|
C |
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 |
|
rs121909627
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
|
7795583 |
1995 |
|
rs121909627
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
|
7874169 |
1994 |
|
rs121909627
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
|
7874169 |
1994 |