(Q44267918)

1 December 2017

title

A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment (English)

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1 December 2017

4

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1 December 2017

Laurette Renard

1

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1 December 2017

Catherine Godfraind

series ordinal

2

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1 December 2017

Laurence M Boon

series ordinal

3

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1 December 2017

publication date

1 February 2003

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1 December 2017

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1 December 2017

volume

25

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1 December 2017

issue

2

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1 December 2017

page(s)

146-151

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HEREDITARY DEFICIENCIES OF CLOTTING FACTORS VII AND X ASSOCIATED WITH CAROTID-BODY TUMORS

1 December 2017

cites work

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7 January 2021

Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory

1 reference

7 January 2021

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

1 reference

7 January 2021

Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity

1 reference

7 January 2021

Germline SDHD mutation in familial phaeochromocytoma

1 reference

7 January 2021

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

1 reference

7 January 2021

Current trends in the detection and management of carotid body tumors

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7 January 2021

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

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7 January 2021

A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

1 reference

7 January 2021

Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q

1 reference

7 January 2021

Familial carotid body tumors: case report and epidemiologic review

1 reference

7 January 2021

Familial multiple cervical paragangliomas: report of a kindred and review of the literature

1 reference

7 January 2021

Proportion of heritable paraganglioma cases and associated clinical characteristics

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7 January 2021

Definitive radiotherapy in the management of chemodectomas arising in the temporal bone, carotid body, and glomus vagale

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7 January 2021

Hereditary paraganglioma

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7 January 2021

Carotid body tumors. A thirty year experience at Memorial Hospital

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7 January 2021

111Indium pentetreotide scan detection of familial paragangliomas

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7 January 2021

Germline SDHD mutation in paraganglioma of the spinal cord

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7 January 2021

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma

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7 January 2021

Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss

1 reference

7 January 2021

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