Associated Papers
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.
Lima JV et al.
Endocrine Oncology (bristol, England), 2023
[Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case].
Delgado JF et al.
Revista Medica De Chile, 2022
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.
Yonamine M et al.
Cancers, 2021
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
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Casey RT et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma.
Takeichi N et al.
Clinical Endocrinology, 2012
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
Yao L et al.
Jama, 2010