(Q39302047)

10 September 2017

MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis (English)

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10 September 2017

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Elisa Pin

1

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Roberta Maestro

Roberta Maestro

11

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Laura Papi

Laura Papi

4

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Marco Agostini

Marco Agostini

10

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Alessandra Viel

Alessandra Viel

15

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Maurizio Genuardi

Maurizio Genuardi

14

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author name string

Chiara Pastrello

2

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10 September 2017

Rossella Tricarico

3

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10 September 2017

Michele Quaia

5

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10 September 2017

Mara Fornasarig

6

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10 September 2017

Ileana Carnevali

7

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10 September 2017

Cristina Oliani

8

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10 September 2017

Alessio Fornasin

9

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10 September 2017

Daniela Barana

12

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10 September 2017

Stefan Aretz

13

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10 September 2017

language of work or name

English

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publication date

28 August 2012

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International Journal of Cancer

10 September 2017

10

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based on heuristic

inferred from page(s)

published in

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10 September 2017

132

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10 September 2017

5

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10 September 2017

1060-1069

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Introduction to molecular and clinical genetics of colorectal cancer syndromes.

10 September 2017

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Genetics of hereditary colorectal cancer

21 January 2018

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Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

21 January 2018

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The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle

21 January 2018

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Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study

21 January 2018

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Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

21 January 2018

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MUTYH Associated Polyposis (MAP).

21 January 2018

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A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.

21 January 2018

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Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.

21 January 2018

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Leiden Open Variation Database of the MUTYH gene

21 January 2018

1 reference

Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk

21 January 2018

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The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients

21 January 2018

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Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study

21 January 2018

1 reference

Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.

21 January 2018

1 reference

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

21 January 2018

1 reference

Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

21 January 2018

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Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.

21 January 2018

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21 January 2018

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Pathological features of colorectal carcinomas in MYH-associated polyposis

21 January 2018

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Expanded extracolonic tumor spectrum in MUTYH-associated polyposis

21 January 2018

1 reference

MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.

21 January 2018

1 reference

High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence

21 January 2018

1 reference

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis

21 January 2018

1 reference

A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus.

21 January 2018

1 reference

Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair

21 January 2018

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Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

21 January 2018

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MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

21 January 2018

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Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

21 January 2018

1 reference

How old is this mutation? - a study of three Ashkenazi Jewish founder mutations.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/IJC.27761

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10 September 2017

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