Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. (Q42638044)

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scientific article published on February 2010

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English	Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.	scientific article published on February 2010

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11 February 2020

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

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11 February 2020

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Edenir Inêz Palmero

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11 February 2020

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11 February 2020

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11 February 2020

Maria Isabel Achatz

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11 February 2020

Patricia Ashton-Prolla

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Patricia Ashton-Prolla

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11 February 2020

Ricardo Renzo Brentani

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Ricardo Renzo Brentani

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11 February 2020

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Sonia Garritano

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11 February 2020

Federica Gemignani

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11 February 2020

Magali Olivier

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11 February 2020

Ghyslaine Martel-Planche

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11 February 2020

Florence Le Calvez-Kelm

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11 February 2020

Laurence Brugiéres

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11 February 2020

Fernando Regla Vargas

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11 February 2020

Sean V Tavtigian

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11 February 2020

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1 February 2010

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11 February 2020

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11 February 2020

31

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11 February 2020

2

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11 February 2020

143-150

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11 February 2020

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of the germline TP53 R337H mutation with breast cancer in southern Brazil

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple primary cancers in families with Li-Fraumeni syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Prediction of pathogenic mutations in patients with early-onset breast cancer by family history

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

A fluid salt-bridging cluster and the stabilization of p53.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline TP53 R337H mutation is not sufficient to establish Li-Fraumeni or Li-Fraumeni-like syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

The Li-Fraumeni syndrome: from clinical epidemiology to molecular genetics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21151

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21151

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19877175%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19877175%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

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