(Q81646190)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18629513%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18629513%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

1 reference

N Uhrhammer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18629513%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Y-J Bignon

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18629513%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

publication date

16 July 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18629513%20AND%20SRC:MED&resulttype=core&format=json

International Journal of Colorectal Disease

10 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18629513%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18629513%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18629513%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

1131-1135

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18629513%20AND%20SRC:MED&resulttype=core&format=json

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

10 January 2020

cites work

1 reference

12 December 2020

1 reference

12 December 2020

The genetics of HNPCC: application to diagnosis and screening

1 reference

12 December 2020

Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds

1 reference

12 December 2020

Double frameshift mutations in APC and MSH2 in the same individual.

1 reference

12 December 2020

Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.

1 reference

12 December 2020

Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate

1 reference

12 December 2020

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family

1 reference

12 December 2020

Attenuated familial adenomatous polyposis (AFAP). A review of the literature

1 reference

12 December 2020

A novelMSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years

1 reference

12 December 2020

Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Constitutive deficiency in DNA mismatch repair

1 reference

12 December 2020

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

1 reference

12 December 2020