Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. (Q44059636)

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10 November 2019

title

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma (English)

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10 November 2019

10

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10 November 2019

Alberto Cascón

1

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10 November 2019

Sergio Ruiz-Llorente

2

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10 November 2019

author name string

Arancha Cebrian

3

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10 November 2019

Dolores Telleria

4

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10 November 2019

Jose Carlos Rivero

5

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10 November 2019

Juan Jose Diez

6

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10 November 2019

Pablo J Lopez-Ibarra

7

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10 November 2019

Miguel Angel Jaunsolo

8

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10 November 2019

Javier Benitez

9

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10 November 2019

publication date

1 August 2002

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European Journal of Human Genetics

10 November 2019

published in

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10 November 2019

volume

10

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10 November 2019

issue

8

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10 November 2019

page(s)

457-461

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

10 November 2019

cites work

1 reference

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

21 January 2018

1 reference

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Germline SDHD mutation in paraganglioma of the spinal cord

21 January 2018

1 reference

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

21 January 2018

1 reference

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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/10.1038%2FSJ.EJHG.5200829

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

21 January 2018

1 reference

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Mitochondrial reactive oxygen species trigger hypoxia-induced transcription

21 January 2018

1 reference

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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

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Multiple endocrine neoplasia: how many syndromes?

21 January 2018

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Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations

21 January 2018

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

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A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region

21 January 2018

1 reference

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Germline SDHD mutation in familial phaeochromocytoma

21 January 2018

1 reference

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Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23

21 January 2018

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Progress in understanding structure-function relationships in respiratory chain complex II.

21 January 2018

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The smallest membrane anchoring subunit (QPs3) of bovine heart mitochondrial succinate-ubiquinone reductase. Cloning, sequencing, topology, and Q-binding domain

21 January 2018

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The biology and enzymology of eukaryotic protein acylation

21 January 2018

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Familial paragangliomas: linkage to chromosome 11q23 and clinical implications

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200829