(Q35643184)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Friend SH

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Frebourg T

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Barbier N

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Yan YX

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Garber JE

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Dreyfus M

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Fraumeni J Jr

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Li FP

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

language of work or name

English

0 references

publication date

1 March 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

608-615

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

Clinical implications of the p53 tumor-suppressor gene

27 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Predictive testing for germline mutations in the p53 gene: are all the questions answered?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

[Hereditary p53 mutation in a patient with multiple tumors: significance for genetic counseling].

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

WAF1, a potential mediator of p53 tumor suppression

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

The p21 Cdk-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

The affected-pedigree-member method of linkage analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

A cancer family syndrome in twenty-four kindreds

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

p53 functions as a cell cycle control protein in osteosarcomas

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

A series of mammalian expression vectors and characterisation of their expression of a reporter gene in stably and transiently transfected cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

The p53 tumour suppressor gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

p53 mutations in human cancers

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

An Alu polymorphism intragenic to the TP53 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

p53 alteration is a common event in the spontaneous immortalization of primary BALB/c murine embryo fibroblasts

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Inherited p53 gene mutations in breast cancer

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

The mdm-2 oncogene product forms a complex with the p53 protein and inhibits p53-mediated transactivation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

p53 function and dysfunction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Germ-line splicing mutation of the p53 gene in a cancer-prone family

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Cancer risks from germline p53 mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

TP53 tumor suppressor gene: a model for investigating human mutagenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Learning how to suppress cancer.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

Screening for germ line TP53 mutations in breast cancer patients

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801151

p53 germline mutations in Li-Fraumeni syndrome

15 November 2018

1 reference

12 December 2020

Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms

1 reference

12 December 2020

Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma

1 reference

12 December 2020

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

1 reference

12 December 2020

A functional screen for germ line p53 mutations based on transcriptional activation

1 reference

12 December 2020

Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer

1 reference

12 December 2020

The p53 tumor suppressor protein: meeting review

1 reference

12 December 2020

A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm

1 reference

12 December 2020

Screening patients for heterozygous p53 mutations using a functional assay in yeast

1 reference

12 December 2020

Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma

1 reference

12 December 2020

A germ line mutation in exon 5 of the p53 gene in an extended cancer family

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

7887414

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887414%20AND%20SRC:MED&resulttype=core&format=json