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Article

Gross <i>SDHB</i> deletions in patients with paraganglioma detected by multiplex PCR: A possible hot spot?

28 Oct 2005

Abstract excerpt

Pheochromocytoma and paraganglioma are rare neuroendocrine tumors that arise in the adrenal medulla and the extra-adrenal paraganglia, respectively. Inheritance of these tumors is mainly a result of mutations affecting the VHL, RET, NF1, and SDH genes. Germ-line mutations of the SDH genes have been found to account for nearly 10% of apparently sporadic cases. Nevertheless, alterations other than point mutations...

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Identifiers

PMID: 16258955
DOI: 10.1002/gcc.20283

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Related research

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Research trail→

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Gross <i>SDHB</i> deletions in patients with paraganglioma detected by multiplex PCR: A possible hot spot?PMID 16258955Read ↗

Molecular characterisation of a common SDHB deletion in paraganglioma patients.Semantic proximity Read ↗

Large Germline Deletions of Mitochondrial Complex II Subunits SDHB and SDHD in Hereditary ParagangliomaSemantic proximity Read ↗

Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With ParagangliomaSemantic proximity Read ↗

High Frequency of<i>SDHB</i>Germline Mutations in Patients with Malignant Catecholamine-Producing Paragangliomas: Implications for Genetic TestingSemantic proximity Read ↗

<i>SDHC</i> mutation in an elderly patient without familial antecedentsSemantic proximity Read ↗

High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.Semantic proximity Read ↗

Penetrance and clinical consequences of a gross SDHB deletion in a large family.Semantic proximity Read ↗

Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.Semantic proximity Read ↗

Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.Semantic proximity Read ↗

Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene.Semantic proximity Read ↗

The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR.Semantic proximity Read ↗

Malignant head and neck paragangliomas in SDHB mutation carriers.Semantic proximity Read ↗

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