(Q38301022)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557300%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

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

1 reference

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31 December 2019

12

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31 December 2019

4

Christine Lasset

1 reference

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31 December 2019

author name string

Jessie Auclair

1

1 reference

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31 December 2019

Dominique Leroux

2

1 reference

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31 December 2019

Françoise Desseigne

3

1 reference

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31 December 2019

Jean Christophe Saurin

5

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31 December 2019

Marie Odile Joly

6

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31 December 2019

Stéphane Pinson

7

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31 December 2019

Xiao Li Xu

8

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31 December 2019

Gilles Montmain

9

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31 December 2019

Eric Ruano

10

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31 December 2019

Claudine Navarro

11

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31 December 2019

Qing Wang

13

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31 December 2019

publication date

1 November 2007

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31 December 2019

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31 December 2019

volume

28

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31 December 2019

issue

11

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31 December 2019

page(s)

1084-1090

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Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Early onset brain tumor and lymphoma in MSH2-deficient children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Gene conversions are a common cause of von Willebrand disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Extensive gene conversion at the PMS2 DNA mismatch repair locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

A homozygous mutation in MSH6 causes Turcot syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Intense and highly localized gene conversion activity in human meiotic crossover hot spots

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Mismatch repair deficiency in phenotypically normal human cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Gene conversion is a likely cause of mutation in PKD1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20569

7 January 2021

Identifiers

DOI

10.1002/HUMU.20569

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17557300%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference