Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes (Q36652773)

15 August 2017

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title

Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes (English)

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15 August 2017

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4

Bruce G Robinson

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15 August 2017

Diana E Benn

1

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15 August 2017

Anne Louise Richardson

series ordinal

2

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15 August 2017

Deborah J Marsh

series ordinal

3

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15 August 2017

language of work or name

English

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publication date

1 August 2006

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Annals of the New York Academy of Sciences

15 August 2017

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15 August 2017

1073

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15 August 2017

104-111

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Germ-line mutations in nonsyndromic pheochromocytoma

15 August 2017

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https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Mutations of the SDHB and SDHD genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

G12S and H50R variations are polymorphisms in the SDHD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Neurofibromin, a tumor suppressor in the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1353.011

21 January 2018

Identifiers

DOI

10.1196/ANNALS.1353.011

1 reference

15 August 2017

1 reference