Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. - Test2 - elhamkhani - TriplyDB

Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.

Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.

http://www.wikidata.org/entity/Q43660947

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Succinate Dehydrogenase Loss in Familial Paraganglioma: Biochemistry, Genetics, and Epigenetics Role of mitochondrial dysfunction in cancer progression Molecular markers of paragangliomas/pheochromocytomas A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.Case of spontaneous regression of carotid body tumor in a SDHD mutant: a discussion on potential mechanisms based on a review of the literature.No evidence for increased mortality in SDHD variant carriers compared with the general population.Genotype and tumor locus determine expression profile of pseudohypoxic pheochromocytomas and paragangliomas The genetics and pathology of mitochondrial disease.Familial pheochromocytomas and paragangliomas.Genetics of hereditary head and neck paragangliomas.Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma.Effects of octreotide therapy in progressive head and neck paragangliomas: case series.No difference in phenotype of the main Dutch SDHD founder mutations.Illness perceptions, risk perception and worry in SDH mutation carriers.Feasibility of a wait-and-scan period as initial management strategy for head and neck paraganglioma.Carotid body tumors are not associated with an increased risk for sleep-disordered breathing.Phenotype of SDHB mutation carriers in the Netherlands.

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Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.

http://www.wikidata.org/entity/Q43660947

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Mutations in SDHD are the majo ...... d neck paraganglioma patients.

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J.1365-2265.2011.04097.X

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Clinical Endocrinology

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Mutations in SDHD are the majo ...... d neck paraganglioma patients.

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A G L van der Mey

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A H J T Vriends

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C J Cornelisse

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C M J Tops

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E F Hensen

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E P M Corssmit

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J A Romijn

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J C Jansen

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J P Bayley

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M D Siemers

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P2860

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing

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

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

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

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis.

SDHA is a tumor suppressor gene causing paraganglioma.

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650-655

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10.1111/J.1365-2265.2011.04097.X

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