Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We now report a single FGFR3 mutation found in 8 out of 14 unrelated patients with hypochondroplasia.
|
7670477 |
1995 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, linkage studies in a 3-generation family with hypochondroplasia show discordant segregation with markers in the 4p16.3 region suggesting that at least some cases of hypochondroplasia are caused by mutations in a gene other than FGFR3.
|
7702086 |
1995 |
Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
The genotyping of a three-generation family showed no recombinants between the hypochondroplasia phenotype and three highly polymorphic markers flanking the FGFR3 gene.
|
8589686 |
1995 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We now report a single FGFR3 mutation found in 8 out of 14 unrelated patients with hypochondroplasia.
|
7670477 |
1995 |
Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
|
7647778 |
1995 |
Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
|
8841188 |
1996 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although most cases of hypochondroplasia were accounted for by a recurrent missense substitution (Asn540Lys) in the first tyrosine kinase domain of FGFR-3, a significant proportion (40%) of the patients in the present study did not possess this Asn540Lys mutation.
|
9055906 |
1996 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the type II collagen gene account for most spondyloepiphyseal dysplasia and spondyloepiphyseal dysplasia-like clinical disorders, whereas mutations in the fibroblast growth factor receptor 3 gene are responsible for achondroplasia, thanatophoric dysplasia, and hypochondroplasia.
|
8879993 |
1996 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been found in persons with achondroplasia, thanatophoric dysplasia, and hypochondroplasia.
|
9300204 |
1997 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our patient demonstrated one of the common FGFR3 mutations identified in hypochondroplasia, a C-to-A change at nucleotide 1620 (C1620A) in the tyrosine kinase domain.
|
9842995 |
1998 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Here we report an A to G transition at position 1651, predicting an Ile538Val substitution in the FGFR3, in hypochondroplasia.
|
10215410 |
1998 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia.
|
9450868 |
1998 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
|
9452043 |
1998 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report an A to G transition at position 1651, predicting an Ile538Val substitution in the FGFR3, in hypochondroplasia.
|
10215410 |
1998 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results support evidence of similar frequency of common type N540K mutation of FGFR3 in Russian hypochondroplasia and of the genetic heterogeneity of hypochondroplasia, suggesting the need for further search for responsible molecular abnormalities for phenotypically similar hypochondroplasia patients negative for TK1 domain mutation in FGFR3, reported in hypochondroplasia.
|
10395236 |
1998 |
Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the tyrosine kinase domain of fibroblast growth factor receptor gene (FGFR3) have been described in some cases of hypochondroplasia (Hch).
|
9672519 |
1998 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.
|
10360393 |
1999 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in the FGFR3 gene.
|
10360392 |
1999 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of human fibroblast growth factor receptor 3 (FGFR3) result in several skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia.
|
9887329 |
1999 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hypochondroplasia (HCH) is caused by mutations in the fibroblast growth factor receptor type 3 (FGFR 3).
|
10564875 |
1999 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we analyzed the FGFR3 gene in 26 Japanese patients with ACH and 14 with HCH.
|
10890199 |
2000 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In 90 individuals with suspected clinical diagnoses of hypochondroplasia who do not have Asn540Lys mutations, we screened for mutations, in FGFR3 exon 15, that would disrupt a unique BbsI restriction site that includes the Lys650 codon.
|
11055896 |
2000 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hypochondroplasia (HCH), the mildest form of this group of short-limbed dwarfism disorders, results in approximately 60% of cases from a mutation in the intracellular FGFR3-tyrosine kinase domain.
|
11015576 |
2000 |