Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing. (Q37160436)

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23 January 2020

title

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing (English)

1 reference

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23 January 2020

0 references

1 reference

whole genome sequencing

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6

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23 January 2020

Thomas Schwarzbraun

1

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23 January 2020

Anna C Obenauf

2

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23 January 2020

author name string

A Langmann

3

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23 January 2020

U Gruber-Sedlmayr

4

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23 January 2020

K Wagner

5

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23 January 2020

P M Kroisel

7

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23 January 2020

language of work or name

English

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publication date

5 March 2009

1 reference

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Journal of Medical Genetics

23 January 2020

published in

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23 January 2020

volume

46

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23 January 2020

issue

5

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23 January 2020

page(s)

341-344

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

23 January 2020

cites work

1 reference

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6 September 2017

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Inherited cancer susceptibility syndromes in paediatric practice

6 September 2017

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Clinical management recommendations for surveillance and risk-reduction strategies for hereditary breast and ovarian cancer among individuals carrying a deleterious BRCA1 or BRCA2 mutation

6 September 2017

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Hereditary cancer predisposition in children: genetic basis and clinical implications

6 September 2017

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The new cytogenetics: blurring the boundaries with molecular biology

6 September 2017

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American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer Susceptibility

6 September 2017

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Germline mutations in the TP53 gene

6 September 2017

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

6 September 2017

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Mutation and cancer: statistical study of retinoblastoma

6 September 2017

1 reference

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A cancer family syndrome in twenty-four kindreds

6 September 2017

1 reference

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Cancer. p53, guardian of the genome

6 September 2017

1 reference

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Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome

6 September 2017

1 reference

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Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.

27 June 2018

1 reference

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

3 September 2018

1 reference

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p53: a glimpse at the puppet behind the shadow play

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19269943

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2008.064972

1 reference

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23 January 2020

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23 January 2020

PubMed publication ID

19269943

1 reference