|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.
|
17311302 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
|
16494995 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.
|
16401470 |
2006 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutant p53 proteins bind DNA in a DNA structure-selective mode.
|
15722483 |
2005 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.
|
15925506 |
2005 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutant p53 proteins bind DNA in a DNA structure-selective mode.
|
15722483 |
2005 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.
|
15951970 |
2005 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family.
|
12885464 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.
|
12917626 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.
|
12917626 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.
|
12692171 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family.
|
12885464 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.
|
11370630 |
2001 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.
|
10922393 |
2000 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
|
10484981 |
1999 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Dominant-negative mutations of the tumor suppressor p53 relating to early onset of glioblastoma multiforme.
|
10519380 |
1999 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.
|
9667734 |
1998 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Li-Fraumeni syndrome--a molecular and clinical review.
|
9218725 |
1997 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
|
9242456 |
1997 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.
|
7783166 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Incidence of germ-line p53 mutations in patients with gliomas.
|
8550239 |
1995 |