(Q34145842)

31 July 2017

title

Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors (English)

1 reference

31 July 2017

J M Varley

1

1 reference

31 July 2017

G McGown

2

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31 July 2017

M Thorncroft

3

1 reference

31 July 2017

L A James

4

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31 July 2017

G P Margison

5

1 reference

31 July 2017

G Forster

6

1 reference

31 July 2017

D G Evans

7

1 reference

31 July 2017

M Harris

8

1 reference

31 July 2017

A M Kelsey

9

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31 July 2017

J M Birch

10

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 October 1999

1 reference

American Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

65

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31 July 2017

issue

4

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31 July 2017

page(s)

995-1006

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Radiation-induced G1 arrest is not defective in fibroblasts from Li-Fraumeni families without TP53 mutations

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Multiple primary cancers in families with Li-Fraumeni syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

A comprehensive genetic map of the human genome based on 5,264 microsatellites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

A cancer family syndrome in twenty-four kindreds

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Structural aspects of the p53 protein in relation to gene evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

'Touchdown' PCR to circumvent spurious priming during gene amplification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Analysis of p53 expression in human tumours: an antibody raised against human p53 expressed in Escherichia coli

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Association of germline p53 mutation with MLL segmental jumping translocation in treatment-related leukemia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Genetic transmission of susceptibility to cancer in families of children with soft tissue sarcomas

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

The p53 gene in pediatric therapy-related leukemia and myelodysplasia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Novel germline mutation of the p53 tumor suppressor gene in a child with incidentally discovered adrenal cortical carcinoma

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li – Fraumeni patients carrying a mutation to the TP53 gene

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Frameshift mutator mutations

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288270

Familial Brain Tumour Syndrome Associated with a p53 Germline Deletion of Codon 236

28 October 2018

1 reference

12 December 2020

A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype

1 reference

12 December 2020

Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening

1 reference

12 December 2020

Gene losses in human tumours

1 reference

12 December 2020

Aberrant expression of the p53 oncoprotein is a common feature of a wide spectrum of human malignancies

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

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

1 reference

12 December 2020

p53 mutations are common and early events that precede tumor invasion in squamous cell neoplasia of the skin

1 reference

12 December 2020

Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation

1 reference

12 December 2020

Single base pair germ-line deletion in the p53 gene in a cancer predisposed family

1 reference

12 December 2020

Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations

1 reference

12 December 2020

Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family

1 reference

12 December 2020

Complex replication error causes p53 mutation in a Li-Fraumeni family

1 reference

12 December 2020

A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors

1 reference

12 December 2020

A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier

1 reference

12 December 2020

Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method

1 reference

12 December 2020

A splicing mutation in RB1 in low penetrance retinoblastoma

1 reference

12 December 2020

p53 gene mutation: software and database

1 reference

12 December 2020

High frequency of germline p53 mutations in childhood adrenocortical cancer

1 reference

12 December 2020

Identifiers

DOI

10.1086/302575

1 reference

31 July 2017

1 reference

31 July 2017

1 reference