Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers (Q34579796)

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English	Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers	scientific article

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scholarly article

1 reference

Europe PubMed Central

3 August 2017

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers (English)

1 reference

Europe PubMed Central

3 August 2017

Ruvalcaba syndrome

1 reference

based on heuristic

inferred from title

author name string

K L Lachlan

1

1 reference

Europe PubMed Central

3 August 2017

A M Lucassen

2

1 reference

Europe PubMed Central

3 August 2017

D Bunyan

3

1 reference

Europe PubMed Central

3 August 2017

I K Temple

4

1 reference

Europe PubMed Central

3 August 2017

language of work or name

0 references

publication date

25 May 2007

1 reference

Europe PubMed Central

3 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

3 August 2017

44

1 reference

Europe PubMed Central

3 August 2017

9

1 reference

Europe PubMed Central

3 August 2017

579-585

1 reference

Europe PubMed Central

3 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Cowden's disease. A possible new symptom complex with multiple system involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

PTEN: one gene, many syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Germline mutation of the tumour suppressor PTEN in Proteus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Will the real Cowden syndrome please stand up: revised diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Inherited macrocephaly-hamartoma syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Cowden disease. Report of a family and review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Cowden syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

Cowden syndrome and Lhermitte-Duclos disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

The dermatopathology of Cowden's syndrome*

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

7 July 2018

[Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

Genetic background controls tumor development in PTEN-deficient mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

Brain magnetic resonance imaging in patients with Cowden syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

PTEN mutations are uncommon in Proteus syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

Biallelic inactivating mutations and an occult germline mutation of PTEN in primary cervical carcinomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597943

9 December 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Constipation, polyps, or cancer? let PTEN predict your future

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple Hamartoma Syndrome (Cowden's Disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cowden's disease: a cutaneous marker of breast cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cutaneous pathology of Cowden's disease: new findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lhermitte-duclos disease and cowden disease: A single phakomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bannayan–Riley–Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Granular cell tumor in a PHTS patient with a novel germline PTEN mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17526800

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2007.049981

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

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