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
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 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
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.
Snezhkina A et al.
International Journal of Molecular Sciences, 2022
Integrative analysis of genomic and transcriptomic data of normal, tumour, and co-occurring leukoplakia tissue triads drawn from patients with gingivobuccal oral cancer identifies signatures of tumour initiation and progression.
Ghosh A et al.
The Journal of Pathology, 2022
Somatic Mutation Profiling in Head and Neck Paragangliomas.
Savvateeva M et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Zimmermann MT et al.
Frontiers in Oncology, 2021
Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.
Snezhkina AV et al.
International Journal of Molecular Sciences, 2020
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.
Snezhkina AV et al.
Frontiers in Genetics, 2020
Mutational load in carotid body tumor.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2019
The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma.
Shulskaya MV et al.
The International Journal of Neuroscience, 2018
Association between FAS A670G polymorphism and susceptibility to cervical cancer: evidence from a meta-analysis.
Shen J et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2013
Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.
Poeppel TD et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2011