(Q54608084)

1 June 2018

title

Long-range PCR facilitates the identification of PMS2-specific mutations. (English)

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1 June 2018

author

Mef Nilbert

6

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1 June 2018

Annika Lindblom

4

object named as

Annika Lindblom

1 reference

1 June 2018

Albert de la Chapelle

9

object named as

Albert de la Chapelle

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1 June 2018

author name string

Mark Clendenning

1

1 reference

1 June 2018

Heather Hampel

2

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1 June 2018

Jennifer LaJeunesse

3

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1 June 2018

Jan Lockman

5

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1 June 2018

Leigha Senter

7

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1 June 2018

Kaisa Sotamaa

8

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1 June 2018

publication date

1 May 2006

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1 June 2018

number of pages

6

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inferred from page(s)

published in

Human Mutation

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1 June 2018

volume

27

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1 June 2018

issue

5

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1 June 2018

page(s)

490-495

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1 June 2018

Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-A.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20318

First characterization of a large deletion of the PDHA 1 gene.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer

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https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase

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https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer

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https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

The molecular basis of Turcot's syndrome

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7 January 2021

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

PMS2 mutations in HNPCC

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https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs

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7 January 2021

Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II). II. Biomarker studies

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7 January 2021

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

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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

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https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

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https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Genomic organization of the human PMS2 gene family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Conversion technology and its role in genetic testing of inherited diseases

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7 January 2021

Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer

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7 January 2021

Deficient DNA mismatch repair: a common etiologic factor for colon cancer

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https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20318

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.20318

7 January 2021

Conversion of diploidy to haploidy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20318

7 January 2021

Identifiers

DOI

10.1002/HUMU.20318

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1 June 2018

1 reference

1 June 2018