(Q36594127)

15 August 2017

An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing (English)

1 reference

15 August 2017

S Sandell

1

1 reference

15 August 2017

R J L Schuit

series ordinal

2

1 reference

15 August 2017

D J Bunyan

series ordinal

3

1 reference

15 August 2017

language of work or name

English

0 references

publication date

8 January 2013

1 reference

British Journal of Cancer

15 August 2017

1 reference

15 August 2017

108

1 reference

15 August 2017

2

1 reference

15 August 2017

438-441

1 reference

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

PTEN posttranslational inactivation and hyperactivation of the PI3K/Akt pathway sustain primary T cell leukemia viability

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Alternative splicing of the human PTEN/MMAC1/TEP1 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Dinucleotide repeat polymorphism at the IFNA locus (9p22)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3566822

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

20 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23299532

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23299532

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

PTEN mutation located only outside exons 5, 6, and 7 is an independent predictor of favorable survival in endometrial carcinomas

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23299532

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/BJC.2012.562

1 reference

Dimensions Publication ID

15 August 2017

0 references

1 reference

15 August 2017

PubMed publication ID

23299532

1 reference