JACKSON-WEISS SYNDROME
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
JACKSON-WEISS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.
|
15316116 |
2004 |
JACKSON-WEISS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
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 |
CausalMutation
|
disease |
CLINVAR |
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
|
27028366 |
2016 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
|
11173845 |
2000 |
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 |
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 |
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
|
25271085 |
2015 |
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
|
23348274 |
2013 |
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 |
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
|
8696350 |
1996 |
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
First-trimester prenatal diagnosis of Crouzon syndrome.
|
8650126 |
1996 |
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
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 |
Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.
|
25361936 |
2014 |
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
|
17693524 |
2007 |
JACKSON-WEISS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis.
|
10874645 |
1999 |
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 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
|
7987400 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2010 revision.
|
21438135 |
2011 |
JACKSON-WEISS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2-related PS-variant).
|
27683237 |
2017 |