(Q80513051)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

adult oligodendroglioma

1 reference

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Fred H Menko

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Gertjan L Kaspers

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Gerrit A Meijer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Johanna M van Hagen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Johan J P Gille

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

1 January 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

123-127

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15340263%20AND%20SRC:MED&resulttype=core&format=json

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

1 January 2020

cites work

1 reference

12 December 2020

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

1 reference

12 December 2020

Mlh1 deficiency accelerates myeloid leukemogenesis in neurofibromatosis 1 (Nf1) heterozygous mice

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

1 reference

12 December 2020

Extensive somatic microsatellite mutations in normal human tissue.

1 reference

12 December 2020

The role of hMLH3 in familial colorectal cancer

1 reference

12 December 2020

The role of hPMS1 and hPMS2 in predisposing to colorectal cancer

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12 December 2020

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1

1 reference

12 December 2020

A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots

1 reference

12 December 2020

EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

1 reference

12 December 2020

Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

1 reference

12 December 2020

The molecular basis of Turcot's syndrome

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12 December 2020

The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications

1 reference

12 December 2020

Early onset brain tumor and lymphoma in MSH2-deficient children

1 reference

12 December 2020

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

1 reference

12 December 2020

Neurofibromatosis and early onset of cancers in hMLH1-deficient children

1 reference

12 December 2020

Familial endometrial cancer in female carriers of MSH6 germline mutations

1 reference

12 December 2020

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic susceptibility to non-polyposis colorectal cancer

1 reference

12 December 2020