|
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in different components of FGF signaling in LADD syndrome.
|
16501574 |
2006 |
|
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS).
|
15282208 |
2004 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To better delineate the clinical picture associated with these unusual mutations, we describe a severely affected patient with Pfeiffer syndrome and a missense mutation in the tyrosine kinase (TK) domain of FGFR2.
|
15523615 |
2004 |
|
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Screening of patients with craniosynostosis: molecular strategy.
|
12884424 |
2003 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.
|
11807866 |
2002 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
|
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
|
11274405 |
2001 |
|
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
|
11390973 |
2001 |
|
Pfeiffer Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Contraction of the FGFR2-IgIIIa/c (BEK) expression domain in cases of Apert syndrome- and Pfeiffer syndrome-affected fetal cranial ossification suggests that the mutant activation of this receptor, by ligand-dependent or ligand-independent means, results in negative autoregulation.
|
11596961 |
2001 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the remaining patients, even after screening of the relevant parts of FGFR1, FGFR3, and TWIST.
|
11173845 |
2000 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
|
10712195 |
2000 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.
|
10945669 |
2000 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the remaining patients, even after screening of the relevant parts of FGFR1, FGFR3, and TWIST.
|
11173845 |
2000 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In this study, we set out to examine the exons in FGFR2 most commonly associated with mutations in PS, exons IIIa and IIIc, in a panel of 78 unrelated individuals with PS by the most sensitive method (direct DNA sequencing).
|
10394936 |
1999 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we set out to examine the exons in FGFR2 most commonly associated with mutations in PS, exons IIIa and IIIc, in a panel of 78 unrelated individuals with PS by the most sensitive method (direct DNA sequencing).
|
10394936 |
1999 |
|
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
|
9521581 |
1998 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
|
9475591 |
1998 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two of them showed a 1036T --> C mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, that was earlier reported in PS and in Crouzon syndrome.
|
9475590 |
1998 |
|
Pfeiffer Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.
|
9502772 |
1998 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
|
9719378 |
1998 |
|
Pfeiffer Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.
|
9462761 |
1998 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
|
9693549 |
1998 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mutation identified in our patient, Ser351Cys in FGFR2, represents the first reported cause of Pfeiffer syndrome type III.
|
9714439 |
1998 |
|
Pfeiffer Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Since FGF8 maps to the same chromosomal region as FGFR2, has indeed been shown to be a ligand for FGFR2, and has an expression pattern consistent with limb and craniofacial anomalies, we have screened two kindreds with Pfeiffer syndrome that were previously linked to markers from 10q24-25 and a large number of individuals with craniosynostosis and limb anomalies for mutations in the coding sequence of FGF8.
|
9332670 |
1997 |
|
Pfeiffer Syndrome
|
1.000 |
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 |