Craniosynostosis
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
|
7493034 |
1995 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
|
7670477 |
1995 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A common FGFR3 gene mutation in hypochondroplasia.
|
8589686 |
1995 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
|
8589699 |
1995 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
|
8723101 |
1996 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
|
8845844 |
1996 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
|
8880573 |
1996 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
|
9042914 |
1997 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
|
9042914 |
1997 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis.
|
9107244 |
1997 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
|
9279753 |
1997 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R.
|
9279764 |
1997 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
|
9452043 |
1998 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3.
|
9585583 |
1998 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
|
10094188 |
1999 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Achondroplasia-hypochondroplasia complex in a newborn infant.
|
10360392 |
1999 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.
|
10377013 |
1999 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3).
|
10425034 |
1999 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency.
|
10751173 |
2000 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
|
10861678 |
2000 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.
|
10914960 |
2000 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.
|
11038465 |
2000 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
|
11055896 |
2000 |