|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.
|
25361936 |
2014 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described.
|
7874170 |
1994 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
|
8755573 |
1996 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome.
|
7581378 |
1995 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
|
23348274 |
2013 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
|
25271085 |
2015 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
The Crouzon syndrome locus (CFD1) maps to the region of chromosome 10q2, with the tightest linkage to locus D10S205 (Z = 3.09, theta = 0.00). the Jackson-Weiss syndrome locus in the large Amish pedigree in which the condition was originally described was also linked to the chromosome 10q23-q26 region between loci D10S190 and D10S186.
|
7806229 |
1994 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
|
16418739 |
2006 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
|
11173845 |
2000 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome.
|
9385368 |
1997 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.
|
20133659 |
2010 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
|
22387015 |
2012 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
|
28425981 |
2017 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
First-trimester prenatal diagnosis of Crouzon syndrome.
|
8650126 |
1996 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation.
|
22558232 |
2012 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
|
7987400 |
1994 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
|
8696350 |
1996 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Six different mutations in the fibroblast growth factor receptor 2 have been identified in patients with the clinical diagnosis of JWS.Jabs et al.
|
11343323 |
2001 |
|
JACKSON-WEISS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |