Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Severe, progressive herpetic whitlow caused by an acyclovir-resistant virus in a patient with AIDS.
|
2826609 |
1988 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
p53: a frequent target for genetic abnormalities in lung cancer.
|
2554494 |
1989 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the p53 gene occur in diverse human tumour types.
|
2531845 |
1989 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The frequency of germ line p53 mutations can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation.
|
1978757 |
1990 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The frequency of germ line p53 mutations can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation.
|
1978757 |
1990 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The frequency of germ line p53 mutations can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation.
|
1978757 |
1990 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germ line p53 mutations have been detected in all five LFS families analyzed.
|
1978757 |
1990 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We have now analysed the p53 gene in a family affected by Li-Fraumeni syndrome, a rare autosomal dominant syndrome characterized by the occurrence of diverse mesenchymal and epithelial neoplasms at multiple sites.
|
2259385 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The p53 gene was mapped to this chromosomal region and has been shown to be a tumor suppressor gene, and germ-line mutations of p53 recently were found to be correlated with Li-Fraumeni syndrome, a syndrome characterized by multiple neoplasms.
|
1756264 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In light of the recent discovery of p53 point mutations in the affected Li-Fraumeni syndrome family members tested, RB overexpression may constitute a secondary event in Li-Fraumeni syndrome tumorigenesis.
|
1751410 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We have now analysed the p53 gene in a family affected by Li-Fraumeni syndrome, a rare autosomal dominant syndrome characterized by the occurrence of diverse mesenchymal and epithelial neoplasms at multiple sites.
|
2259385 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We report here on the identification of a p53 germ line mutation at codon 133 (ATG----ACG) in nine members of an extended Li-Fraumeni syndrome family.
|
1933902 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Transforming activity of mutant human p53 alleles.
|
1918170 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The p53 tumour suppressor gene.
|
2046748 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here on the identification of a p53 germ line mutation at codon 133 (ATG----ACG) in nine members of an extended Li-Fraumeni syndrome family.
|
1933902 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study this region of p53 was sequenced in affected individuals from 8 families with LFS.
|
1683921 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have now analysed the p53 gene in a family affected by Li-Fraumeni syndrome, a rare autosomal dominant syndrome characterized by the occurrence of diverse mesenchymal and epithelial neoplasms at multiple sites.
|
2259385 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.
|
1679237 |
1991 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
These findings identify an important subgroup of young patients with cancer who carry germline mutations in the p53 tumor-suppressor gene but whose family histories are not indicative of the Li-Fraumeni syndrome.
|
1565144 |
1992 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Screening for germ line TP53 mutations in breast cancer patients.
|
1591732 |
1992 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to define the spectrum of p53 mutations associated with LFS.
|
1569604 |
1992 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings identify an important subgroup of young patients with cancer who carry germline mutations in the p53 tumor-suppressor gene but whose family histories are not indicative of the Li-Fraumeni syndrome.
|
1565144 |
1992 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Inherited p53 gene mutations in breast cancer.
|
1581912 |
1992 |