(Q37061297)

18 August 2017

Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1 (English)

1 reference

18 August 2017

1 reference

Witold Szyfter

1 reference

18 August 2017

0 references

Aleksander Prejbisz

1 reference

18 August 2017

Mieczyslaw Litwin

1 reference

18 August 2017

Mariola Peczkowska

1 reference

18 August 2017

Andrzej Januszewicz

1 reference

18 August 2017

Jaroslaw Cwikla

1 reference

18 August 2017

Mariusz Pawel Furmanek

object named as

Mariusz Furmanek

1 reference

18 August 2017

Zbigniew Szutkowski

1 reference

18 August 2017

Anna Lewczuk-Myślicka

object named as

Anna Lewczuk

1 reference

18 August 2017

Agata Kubaszek

1 reference

18 August 2017

Charis Eng

1 reference

18 August 2017

Hartmut P. H. Neumann

object named as

Hartmut P H Neumann

1 reference

18 August 2017

Zoran Erlic

1 reference

18 August 2017

Michael M Hoffmann

1 reference

18 August 2017

Andrzej Kawecki

1 reference

18 August 2017

Krzysztof Chojnowski

1 reference

18 August 2017

Martin A Walter

1 reference

18 August 2017

Maren Sullivan

1 reference

18 August 2017

language of work or name

English

0 references

publication date

30 September 2008

1 reference

The Journal of Clinical Endocrinology and Metabolism

18 August 2017

1 reference

18 August 2017

1 reference

18 August 2017

1 reference

18 August 2017

4818-4825

1 reference

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Genetic screening for pheochromocytoma: should SDHC gene analysis be included?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

The molecular pathogenesis of hereditary and sporadic adrenocortical and adrenomedullary tumors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

A high-resolution recombination map of the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Germ-line mutations in nonsyndromic pheochromocytoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Comprehensive human genetic maps: individual and sex-specific variation in recombination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

The distribution of charged amino acids in mitochondrial inner-membrane proteins suggests different modes of membrane integration for nuclearly and mitochondrially encoded proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Succinate: quinone oxidoreductases. Variations on a conserved theme

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2626452

Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18826997

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18826997

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2008-1290

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

18826997

1 reference