The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency (Q25255676)

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English	The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

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1 reference

based on heuristic

inferred from title

phaeochromocytoma

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based on heuristic

inferred from title

mitochondrial complex II deficiency

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based on heuristic

inferred from title

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based on heuristic

inferred from title

2

object named as

Peter Devilee

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author name string

Jean-Pierre Bayley

1

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

Peter E M Taschner

3

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Europe PubMed Central

PubMed publication ID

6 July 2017

language of work or name

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publication date

16 November 2005

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Europe PubMed Central

PubMed publication ID

6 July 2017

BMC Medical Genetics

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Europe PubMed Central

PubMed publication ID

6 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

1

0 references

39

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Europe PubMed Central

PubMed publication ID

6 July 2017

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

7 April 2017

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

7 April 2017

Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

Direct evidence for expression of type II flavoprotein subunit in human complex II (succinate-ubiquinone reductase).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

The pressure rises: update on the genetics of phaeochromocytoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

The Saccharomyces cerevisiae mitochondrial succinate:ubiquinone oxidoreductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 September 2017

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-39

21 January 2018

Germline SDHD mutation in familial phaeochromocytoma

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-39

21 January 2018

Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-39

21 January 2018

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-39

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-39

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-39

21 January 2018

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-39

21 January 2018

Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1325269

28 November 2018

Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families

1 reference

https://pubmed.ncbi.nlm.nih.gov/16288654

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/16288654

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1471-2350-6-39

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

ResearchGate publication ID

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