(Q33681468)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

Germline PTEN mutations in Cowden syndrome-like families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Rosalind Eeles

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

6

I P Tomlinson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

author name string

D J Marsh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

P L Dahia

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

S Caron

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

J B Kum

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

K S Hughes

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

S V Hodgson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

V A Murday

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

R Houlston

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

C Eng

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

language of work or name

English

0 references

publication date

1 November 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

7 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

page(s)

881-885

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

Infrequent genetic alterations of the PTEN/MMAC1 gene in Japanese patients with primary cancers of the breast, lung, pancreas, kidney, and ovary

7 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Growth suppression of glioma cells by PTEN requires a functional phosphatase catalytic domain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

PTEN/MMAC1 mutations in endometrial cancers.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

From bench to bedside... but when?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Genetic testing: the problems and the promise

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Identification of the breast cancer susceptibility gene BRCA2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

PTEN/MMAC1 mutations and EGFR amplification in glioblastomas.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Infrequent mutations in the PTEN/MMAC1 gene among primary breast cancers.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

PTEN/MMAC1 mutations in primary glioblastomas and short-term cultures of malignant gliomas.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Frequent inactivation of PTEN/MMAC1 in primary prostate cancer

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

PTEN gene mutations are seen in high-grade but not in low-grade gliomas.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Somatic mutations of PTEN in glioblastoma multiforme.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Localization of the gene for Cowden disease to chromosome 10q22–23

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Deletion of genes on chromosome 1 in endocrine neoplasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051477

Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

PTEN germ-line mutations in juvenile polyposis coli

1 reference

12 December 2020

The Cowden syndrome: a clinical and genetic study in 21 patients

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.11.881

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9832031%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference