Concepedia

Clinically Guided Genetic Screening in a Large Cohort of Italian Patients with Pheochromocytomas and/or Functional or Nonfunctional Paragangliomas

Massimo Mannelli, Maurizio Castellano, Francesca Schiavi, Sébastiano Filetti, Mara Giacchè, Luigi Mori, Viviana Pignataro, Gianpaolo Bernini, Valentino Giaché, Alessandra Bacca,

The Journal of Clinical Endocrinology & Metabolism · 2009 · 298 citations · 30 references

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Abstract

The aim of the study was to define the frequency of hereditary forms and the genotype/ phenotype correlations in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.

References

30

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Germ-Line Mutations in Nonsyndromic Pheochromocytoma

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Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma

Dewi Astuti, Farida Latif, Ashraf Dallol et al. · The American Journal of Human Genetics · 2001 · 1.1K citations · Full text

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Distinct Clinical Features of Paraganglioma Syndromes Associated With &lt;EMPH TYPE="ITAL"&gt;SDHB&lt;/EMPH&gt; and &lt;EMPH TYPE="ITAL"&gt;SDHD&lt;/EMPH&gt; Gene Mutations

Hartmut P.H. Neumann · JAMA · 2004 · 900 citations