High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome (Q34562591)

3 August 2017

title

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome (English)

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3 August 2017

11

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author name string

Stefan Aretz

1

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3 August 2017

Dietlinde Stienen

2

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3 August 2017

Siegfried Uhlhaas

3

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3 August 2017

Steffan Loff

4

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3 August 2017

Walter Back

5

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3 August 2017

Constanze Pagenstecher

6

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3 August 2017

D Ross McLeod

7

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3 August 2017

Gail E Graham

8

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3 August 2017

Elisabeth Mangold

9

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3 August 2017

René Santer

10

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3 August 2017

Waltraut Friedl

12

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3 August 2017

publication date

1 December 2005

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3 August 2017

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3 August 2017

volume

26

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3 August 2017

issue

6

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3 August 2017

page(s)

513-519

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Genotype-phenotype correlations in Peutz-Jeghers syndrome

3 August 2017

cites work

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An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites

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

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

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STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients

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Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online

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

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

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Relative frequency and morphology of cancers in STK11 mutation carriers

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Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity

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Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome

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Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

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Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma

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Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

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

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The hamartomatous polyposis syndromes: a clinical and molecular review

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STK11 genotyping and cancer risk in Peutz-Jeghers syndrome

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

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Peutz-Jeghers syndrome

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Bronchioloalveolar carcinoma: a new cancer in Peutz-Jeghers syndrome

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Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

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Identifiers

DOI

10.1002/HUMU.20253

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3 August 2017

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