(Q48787173)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16144131%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers (English)

1 reference

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6 January 2020

1

1 reference

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6 January 2020

Emanuela Lucci Cordisco

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16144131%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Anna Maria Chiaravalli

4

1 reference

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6 January 2020

Daniela Furlan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16144131%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Salvatore Pucciarelli

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16144131%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Alessandra Viel

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16144131%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Maria Grazia Tibiletti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16144131%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Hans Morreau

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16144131%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Luigi Boccuto

7

1 reference

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6 January 2020

Carlo Capella

9

1 reference

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6 January 2020

Mauro Boiocchi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16144131%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

language of work or name

English

0 references

publication date

1 August 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16144131%20AND%20SRC:MED&resulttype=core&format=json

The American Journal of Gastroenterology

6 January 2020

published in

1 reference

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6 January 2020

volume

100

1 reference

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6 January 2020

issue

8

1 reference

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6 January 2020

page(s)

1886-1891

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16144131%20AND%20SRC:MED&resulttype=core&format=json

Turcot's syndrome and familial adenomatous polyposis associated with brain tumor: review of related literature

6 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.50441.X

The molecular basis of Turcot's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.50441.X

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.50441.X

Drastic genetic instability of tumors and normal tissues in Turcot syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.50441.X

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.50441.X

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.50441.X

Genomic organization of the human PMS2 gene family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.50441.X

Early onset brain tumor and lymphoma in MSH2-deficient children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.50441.X

Chromosomal instability and p53 inactivation are required for genesis of glioblastoma but not for colorectal cancer in patients with germline mismatch repair gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.50441.X

Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1572-0241.2005.50441.X