(Q42550062)

2 November 2017

0 references

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome (English)

1 reference

2 November 2017

13

1 reference

2 November 2017

N C M Hearle

1

1 reference

2 November 2017

M F Rudd

2

1 reference

2 November 2017

W Lim

3

1 reference

2 November 2017

V Murday

4

1 reference

2 November 2017

A G Lim

5

1 reference

2 November 2017

R K Phillips

6

1 reference

2 November 2017

P W Lee

7

1 reference

2 November 2017

J O'donohue

8

1 reference

2 November 2017

P J Morrison

9

1 reference

2 November 2017

A Norman

10

1 reference

2 November 2017

S V Hodgson

11

1 reference

2 November 2017

A Lucassen

12

1 reference

2 November 2017

language of work or name

English

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publication date

1 April 2006

1 reference

Journal of Medical Genetics

2 November 2017

1 reference

2 November 2017

43

1 reference

2 November 2017

e15

1 reference

2 November 2017

4

1 reference

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

2 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

Genotype-phenotype correlations in Peutz-Jeghers syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

LKB1, a protein kinase regulating cell proliferation and polarity

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4)

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

High frequency of large intragenic deletions in the Fanconi anemia group A gene

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

28 May 2018

Peutz-Jeghers syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563227

16 August 2018

Identifiers

DOI

10.1136/JMG.2005.036830

1 reference

2 November 2017

1 reference

2 November 2017

1 reference