(Q36572009)

15 August 2017

Number of rare germline CNVs and TP53 mutation types (English)

1 reference

15 August 2017

Amanda G Silva

1

1 reference

15 August 2017

Isabel Maria W Achatz

2

1 reference

15 August 2017

Ana Cv Krepischi

3

1 reference

15 August 2017

Peter L Pearson

4

1 reference

15 August 2017

Carla Rosenberg

5

1 reference

15 August 2017

21 December 2012

1 reference

Orphanet Journal of Rare Diseases

15 August 2017

1 reference

15 August 2017

7

1 reference

15 August 2017

101

1 reference

Germline DNA copy number variation in familial and early-onset breast cancer

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

De novo rates and selection of schizophrenia-associated copy number variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

De novo rates and selection of large copy number variation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

Germline copy number variation and cancer risk

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

The p53 mutation "gradient effect" and its clinical implications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

Germline mutations in the TP53 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

Prognostic significance of TP53 alterations in breast carcinoma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

A possible screening test for inherited p53-related defects based on the apoptotic response of peripheral blood lymphocytes to DNA damage

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

A cancer family syndrome in twenty-four kindreds

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

The p53 tumour suppressor gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?

28 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-101

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-101

Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-101

Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-101

A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-101

SgD-CNV, a database for common and rare copy number variants in three Asian populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-101

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

DNA damage-associated dysregulation of the cell cycle and apoptosis control in cells with germ-line p53 mutation

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558401

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

21 September 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-101

Relative frequency and morphology of cancers in carriers of germline TP53 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-101

Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23259501

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23259501

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23259501

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-7-101

1 reference

Dimensions Publication ID

15 August 2017

0 references

1 reference

15 August 2017

PubMed publication ID

23259501

1 reference