Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene.
|
7558045 |
1995 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.
|
7773284 |
1995 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
|
7987400 |
1994 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
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 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome.
|
8696350 |
1996 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome.
|
8696350 |
1996 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome.
|
8696350 |
1996 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
|
8946174 |
1996 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
|
8957519 |
1996 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
|
9586546 |
1998 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only.
|
11424131 |
2001 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.
|
12000365 |
2002 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
Biomarker
|
disease |
BEFREE |
The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.
|
12000365 |
2002 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
[Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases].
|
12575301 |
2002 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Screening of patients with craniosynostosis: molecular strategy.
|
12884424 |
2003 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
|
12884434 |
2003 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.
|
12900900 |
2003 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
|
16061565 |
2005 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.
|
16158432 |
2005 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in different components of FGF signaling in LADD syndrome.
|
16501574 |
2006 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
|
16838304 |
2006 |