Associated Papers
Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.
Armaiz-Pena G et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Concurrent heterozygous Von-Hippel-Lindau and transmembrane-protein-127 gene mutation causing an erythropoietin-secreting pheochromocytoma in a normotensive patient with severe erythrocytosis.
Negro A et al.
Journal of Hypertension, 2020
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
Rattenberry E et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.
Abermil N et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
Yao L et al.
Jama, 2010
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
Qin Y et al.
Nature Genetics, 2010
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