A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing (Q35446790)

8 August 2017

A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing (English)

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8 August 2017

12

Teh BT

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8 August 2017

Cardinal JW

1

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8 August 2017

Bergman L

2

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8 August 2017

Hayward N

3

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8 August 2017

Sweet A

4

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8 August 2017

Warner J

5

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8 August 2017

Marks L

6

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8 August 2017

Learoyd D

7

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8 August 2017

Dwight T

8

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8 August 2017

Robinson B

9

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8 August 2017

Epstein M

10

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8 August 2017

Smith M

11

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8 August 2017

Cameron DP

13

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8 August 2017

Prins JB

14

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8 August 2017

language of work or name

English

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publication date

1 January 2005

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Journal of Medical Genetics

8 August 2017

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8 August 2017

42

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8 August 2017

69-74

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8 August 2017

1

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Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Genetic aspects of adenomatosis of endocrine glands

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

In situ analysis of human menin in normal and neoplastic pancreatic tissues: evidence for differential expression in exocrine and endocrine cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Guidelines for diagnosis and therapy of MEN type 1 and type 2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Identification of MEN1 gene mutations in families with MEN 1 and related disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Characterization of mutations in patients with multiple endocrine neoplasia type 1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Eighteen new polymorphic markers in the multiple endocrine neoplasia type 1 (MEN1) region.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Somatic mutation of the MEN1 gene in parathyroid tumours.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Positional cloning of the gene for multiple endocrine neoplasia-type 1

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Primary hyperparathyroidism: clinical and biochemical features.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

A simple salting out procedure for extracting DNA from human nucleated cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735899

Role of the MEN1 tumour suppressor gene in human ductal pancreatic cancer

15 November 2018

1 reference

12 December 2020

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

1 reference

12 December 2020

MEN1 gene mutations in 12 MEN1 families and their associated tumors

1 reference

12 December 2020

Screening for MEN1 mutations in patients with atypical endocrine neoplasia

1 reference

12 December 2020

Genotype/phenotype correlation of multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas

1 reference

12 December 2020

Zollinger-Ellison syndrome. Clinical presentation in 261 patients

1 reference

12 December 2020

Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia type 1

1 reference

12 December 2020

Screening of the Men1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors

1 reference

12 December 2020

Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine tumours

1 reference

12 December 2020

Multiple endocrine neoplasia type 1: clinical and genetic topics

1 reference

12 December 2020

Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states

1 reference

12 December 2020

Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas

1 reference

12 December 2020

Clinical studies of multiple endocrine neoplasia type 1 (MEN1)

1 reference

12 December 2020

No evidence of germline mutation or somatic deletion of the MEN1 gene in a case of familial multiple endocrine neoplasia type 1 (MEN1)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2003.017319

1 reference

8 August 2017

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8 August 2017

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