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Article

TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.

The Journal of clinical endocrinology and metabolism - 1 May 2012

Abermil Nassera, Guillaud-Bataille Marine, Burnichon Nelly, Venisse Annabelle, Manivet Philippe, Guignat Laurence, Drui Delphine, Chupin Maurice, Josseaume Claire, Affres Hélène, Plouin Pierre-François, Bertherat Jérôme, Jeunemaître Xavier, Gimenez-Roqueplo Anne-Paule

Abstract excerpt

CONTEXT: TMEM127 is a novel pheochromocytoma (PCC) susceptibility gene. OBJECTIVES: Our aim was to clearly determine the indications for TMEM127 genetic testing in patients with PCC and/or paraganglioma (PGL). PATIENTS AND METHODS: Germline DNA from 642 unrelated patients who did not carry mutations in major PCC susceptibility genes was analyzed. Five hundred fifty-nine patients were affected by PCC, 72 by PGL...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22419703
DOI: 10.1210/jc.2011-3360

Genes

RET
SDHB
SDHD
VHL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.PMID 22419703Read ↗

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Spectrum and Prevalence of <i>FP/TMEM127</i> Gene Mutations in Pheochromocytomas and ParagangliomasSemantic proximity Read ↗

Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma.Semantic proximity Read ↗

Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistrySemantic proximity Read ↗

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Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.Semantic proximity Read ↗

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.Semantic proximity Read ↗

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