Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? (Q33674349)

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24 October 2019

title

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

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24 October 2019

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9

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24 October 2019

author name string

C Eng

1

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24 October 2019

V Murday

2

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24 October 2019

S Seal

3

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24 October 2019

S Mohammed

4

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24 October 2019

S V Hodgson

5

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24 October 2019

M A Chaudary

6

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24 October 2019

I S Fentiman

7

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24 October 2019

B A Ponder

8

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24 October 2019

language of work or name

English

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publication date

1 June 1994

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Journal of Medical Genetics

24 October 2019

published in

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24 October 2019

volume

31

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24 October 2019

issue

6

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24 October 2019

page(s)

458-461

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p53 protein expression in benign and malignant skin tumours

24 October 2019

cites work

1 reference

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p53 gene mutations in human epithelial skin cancers

14 July 2018

1 reference

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Clinical implications of the p53 tumor-suppressor gene

14 July 2018

1 reference

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Physical and functional interaction between WT1 and p53 proteins

14 July 2018

1 reference

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Colorectal polyps in Cowden's disease (multiple hamartoma syndrome).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049923

Lhermitte-Duclos Disease (Granule Cell Hypertrophy of the Cerebellum) Pathological Analysis of the First Familial Cases

14 July 2018

1 reference

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Cowden disease in a young girl: gynecologic and immunologic overview in a case and in the literature

14 July 2018

1 reference

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

14 July 2018

1 reference

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

14 July 2018

1 reference

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Follow-up study of twenty-four families with Li-Fraumeni syndrome

14 July 2018

1 reference

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p53 mutations in human cancers

14 July 2018

1 reference

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Cowden syndrome and Lhermitte-Duclos disease

14 July 2018

1 reference

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Lhermitte-duclos disease and cowden disease: A third case

14 July 2018

1 reference

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Recurrent Lhermitte-Duclos disease: report of two cases and association with Cowden's disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049923

The mdm-2 oncogene product forms a complex with the p53 protein and inhibits p53-mediated transactivation

14 July 2018

1 reference

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Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings

14 July 2018

1 reference

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Specific repression of TATA-mediated but not initiator-mediated transcription by wild-type p53.

30 October 2018

1 reference

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Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049923

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

30 October 2018

1 reference

12 December 2020

Cowden syndrome: clinical and pathological considerations in two new cases

1 reference

12 December 2020

Lhermitte-duclos disease and cowden disease: A single phakomatosis

1 reference

12 December 2020

Cowden's disease. A case report with analyses at the molecular level

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.6.458

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8071972%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

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24 October 2019

PubMed publication ID

8071972

1 reference