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The Li-Fraumeni syndrome
scientific article published on 01 January 2002
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
11900879
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11900879%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
title
The Li-Fraumeni syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11900879
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11900879%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
main subject
Li-Fraumeni syndrome
1 reference
based on heuristic
inferred from title
author name string
Agnès Chompret
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11900879
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11900879%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
publication date
1 January 2002
1 reference
stated in
Europe PubMed Central
PubMed ID
11900879
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11900879%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
published in
Biochimie
1 reference
stated in
Europe PubMed Central
PubMed ID
11900879
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11900879%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
volume
84
1 reference
stated in
Europe PubMed Central
PubMed ID
11900879
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11900879%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11900879
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11900879%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
page(s)
75-82
1 reference
stated in
Europe PubMed Central
PubMed ID
11900879
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11900879%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
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Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma
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7 January 2021
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7 January 2021
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7 January 2021
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7 January 2021
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Wilms' tumor in the Li-Fraumeni cancer family syndrome
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7 January 2021
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Are germ cell tumors part of the Li-Fraumeni cancer family syndrome?
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Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
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7 January 2021
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Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome
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Crossref
reference URL
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7 January 2021
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Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein
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7 January 2021
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Screening patients for heterozygous p53 mutations using a functional assay in yeast
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7 January 2021
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Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours
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7 January 2021
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7 January 2021
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Tumor spectrum analysis in p53-mutant mice
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7 January 2021
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Relative frequency and morphology of cancers in carriers of germline TP53 mutations
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7 January 2021
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Choroid plexus tumors in the breast cancer-sarcoma syndrome.
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7 January 2021
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Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma
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7 January 2021
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Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma
1 reference
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7 January 2021
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High frequency of germline p53 mutations in childhood adrenocortical cancer
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An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma
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7 January 2021
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Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma
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7 January 2021
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Incidence of germ-line p53 mutations in patients with gliomas.
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7 January 2021
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Germline p53 gene mutations in subsets of glioma patients.
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Sensitivity and predictive value of criteria for p53 germline mutation screening
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7 January 2021
based on heuristic
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Constitutional p53 mutation in a non-Li-Fraumeni cancer family
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms
1 reference
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7 January 2021
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Germ-line p53 mutation is uncommon in patients with triple primary cancers
1 reference
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reference URL
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7 January 2021
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Li-Fraumeni syndrome--a molecular and clinical review
1 reference
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Crossref
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7 January 2021
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The p53 protein and its interactions with the oncogene products of the small DNA tumor viruses
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Cancer. p53, guardian of the genome
1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
Wild-type p53 is a cell cycle checkpoint determinant following irradiation
1 reference
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7 January 2021
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inferred from DOI database lookup
Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
p53 gene mutation: software and database
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
Novel p53 splice site mutations in three families with Li-Fraumeni syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of germline TP53 splicing mutations and their genetic and functional analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A possible screening test for inherited p53-related defects based on the apoptotic response of peripheral blood lymphocytes to DNA damage
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A simple p53 functional assay for screening cell lines, blood, and tumors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An oncogenic form of p53 confers a dominant, gain-of-function phenotype that disrupts spindle checkpoint control
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional analyses of a unique p53 germline mutant (Y236delta) associated with a familial brain tumor syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li – Fraumeni patients carrying a mutation to the TP53 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chromosome instability is a predominant trait of fibroblasts from Li-Fraumeni families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic alterations associated with loss of heterozygosity for TP53 in Li-Fraumeni syndrome fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The relationship between radiation-induced G(1)arrest and chromosome aberrations in Li-Fraumeni fibroblasts with or without germline TP53 mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gamma-rays-induced death of human cells carrying mutations of BRCA1 or BRCA2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dissociation between cell cycle arrest and apoptosis can occur in Li-Fraumeni cells heterozygous for p53 gene mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple primary cancers in families with Li-Fraumeni syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Screening hCHK2 for Mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of tumor-associated Chk2 mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0300-9084%2801%2901361-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0300-9084(01)01361-X
1 reference
stated in
Europe PubMed Central
PubMed ID
11900879
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11900879%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
PubMed ID
11900879
1 reference
stated in
Europe PubMed Central
PubMed ID
11900879
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11900879%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
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