|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
|
25251565 |
2014 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes.
|
27762162 |
2017 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like domains, is associated with highly specific phenotypic consequences in that mutation at this point in FGFR1 results in Pfeiffer syndrome and analogous mutation in FGFR2 results in Apert syndrome.
|
9279753 |
1997 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2.
|
10394936 |
1999 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A mild form of Pfeiffer syndrome can rarely be caused by a specific mutation in FGFR1.
|
23532954 |
2013 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome.
|
7874169 |
1994 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome.
|
7874169 |
1994 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
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
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
|
16764984 |
2006 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
|
28754744 |
2017 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities.
|
7719345 |
1995 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
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
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this study, we analyzed FGFR1-3 genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS-2), one patient with Jackson-Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome (MS).
|
27683237 |
2017 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Previously, we have mapped PS in a subset of families to chromosome 8cen by linkage analysis and demonstrated a common mutation in the fibroblast growth factor receptor-1 (FGFR1) gene in the linked families.
|
7795583 |
1995 |
|
Pfeiffer Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Less frequently, mutations are observed in FGFR1 and FGFR3 in some cases of Crouzon and Pfeiffer syndrome.
|
9342602 |
1997 |
|
Pfeiffer Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
|
25759380 |
2015 |
|
Pfeiffer Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes.
|
21538817 |
2011 |
|
Pfeiffer Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.
|
28825856 |
2017 |
|
Pfeiffer Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
|
23812909 |
2013 |
|
Pfeiffer Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
All mutations described so far for other craniosynostotic syndromes with associated limb anomalies--Jackson-Weiss, Pfeiffer, and Apert--also occur in the extracellular domain of FGFR2, as well as FGFR1 for Pfeiffer syndrome.
|
7493034 |
1995 |
|
Pfeiffer Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
Murine FGFR-1 is required for early postimplantation growth and axial organization.
|
8001823 |
1994 |
|
Pfeiffer Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
|
12627230 |
2003 |
|
Pfeiffer Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The up-regulation of FGFR1 in umbilical cord tissue may lead to reproductive and developmental complications such as encephalocraniocutaneous lipomatosis, osteoglophonic dysplasia, and Pfeiffer syndrome in new-borns.
|
30428736 |
2020 |
|
Pfeiffer Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.
|
10942429 |
2000 |