(Q34504165)

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

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Europe PubMed Central

PubMed publication ID

2 August 2017

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

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Europe PubMed Central

PubMed publication ID

2 August 2017

Bannayan-Riley-Ruvalcaba syndrome

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based on heuristic

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based on heuristic

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C Romano

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C Eng

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author name string

D J Marsh

1

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2 August 2017

J B Kum

2

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2 August 2017

K L Lunetta

3

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2 August 2017

M J Bennett

4

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2 August 2017

R J Gorlin

5

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2 August 2017

S F Ahmed

6

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2 August 2017

J Bodurtha

7

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2 August 2017

C Crowe

8

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2 August 2017

M A Curtis

9

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2 August 2017

M Dasouki

10

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2 August 2017

T Dunn

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2 August 2017

H Feit

12

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2 August 2017

M T Geraghty

13

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2 August 2017

J M Graham

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2 August 2017

S V Hodgson

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2 August 2017

A Hunter

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2 August 2017

B R Korf

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2 August 2017

D Manchester

18

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2 August 2017

S Miesfeldt

19

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2 August 2017

V A Murday

20

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2 August 2017

K L Nathanson

21

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2 August 2017

M Parisi

22

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2 August 2017

B Pober

23

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2 August 2017

publication date

1 August 1999

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2 August 2017

Human Molecular Genetics

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2 August 2017

8

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8

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2 August 2017

1461-1472

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2 August 2017

Cowden syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

Cowden syndrome and Lhermitte-Duclos disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

Macrocephaly with multiple lipomas and hemangiomas

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 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://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

The lipid phosphatase activity of PTEN is critical for its tumor supressor function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

Pten is essential for embryonic development and tumour suppression

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

Deletion of genes on chromosome 1 in endocrine neoplasia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

Germline PTEN mutations in Cowden syndrome-like families.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

A Network Algorithm for Performing Fisher's Exact Test in r × c Contingency Tables

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

High cancer susceptibility and embryonic lethality associated with mutation of the PTEN tumor suppressor gene in mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1461

21 January 2018

Identifiers

10.1093/HMG/8.8.1461

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

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