Paraganglioma of the head and neck: a review

L Sandow, R Thawani, MS Kim, MC Heinrich - Endocrine Practice, 2023 - Elsevier
Objective To review the epidemiology, presentation, diagnosis, and management of head
and neck paragangliomas. Methods A literature review of english language papers with …

Medical genetics, genomics and bioinformatics aid in understanding molecular mechanisms of human diseases

YL Orlov, AA Anashkina, VV Klimontov… - International Journal of …, 2021 - mdpi.com
Molecular mechanisms of human disease progression often have complex genetic
underpinnings, and sophisticated sequencing approaches coupled with advanced analytics …

Recent trends in cancer genomics and bioinformatics tools development

AA Anashkina, EY Leberfarb, YL Orlov - International Journal of …, 2021 - mdpi.com
We overview recent research trends in cancer genomics, bioinformatics tools development
and medical genetics, based on results discussed in papers collections “Medical Genetics …

Succinate dehydrogenase mutations in head and neck paragangliomas: A systematic review and meta‐analysis of individual patients' data

ES Koh, A Dabsha, M Rahouma, K Zappi… - Head & …, 2024 - Wiley Online Library
Background Head and neck paragangliomas (HNPs) have been associated with gene
mutations in the succinate dehydrogenase (SDH) complex, but the clinical significance …

High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas

A Guha, A Vicha, T Zelinka, M Kana, Z Musil… - Frontiers in …, 2023 - frontiersin.org
Introduction Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors,
which are mostly benign in nature. Amongst all genes, Succinate Dehydrogenase Subunit D …

Patient sex and origin influence distribution of driver genes and clinical presentation of paraganglioma

S Richter, N Bechmann - Journal of the Endocrine Society, 2024 - academic.oup.com
Context Sexual and ancestral differences in driver gene prevalence have been described in
many cancers but have not yet been investigated in pheochromocytoma and paraganglioma …

Somatic mutation profiling in head and neck paragangliomas

M Savvateeva, A Kudryavtseva… - The Journal of …, 2022 - academic.oup.com
Context Head and neck paragangliomas (HNPGLs) are rare neoplasms with a high degree
of heritability. Paragangliomas present as polygenic diseases caused by combined …

The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and …

A Snezhkina, M Fedorova, A Kobelyatskaya… - International Journal of …, 2022 - mdpi.com
Head and neck paragangliomas (HNPGLs) are rare neuroendocrine neoplasms derived
from the parasympathetic paraganglia of the head and neck. At least 30% of HNPGLs are …

Association between individuals' genomic ancestry and variation in disease susceptibility

R Das, TV Tatarinova, ER Galieva, YL Orlov - Frontiers in genetics, 2022 - frontiersin.org
This Association between Individuals' Genomic Ancestry and Variation in Disease
Susceptibility issue presents the studies related to the fields of human genetics, population …

[HTML][HTML] Non-Susceptibility Gene Variants in Head and Neck Paragangliomas

AV Snezhkina, VS Pavlov, GS Krasnov… - International …, 2024 - pmc.ncbi.nlm.nih.gov
Head and neck paragangliomas (HNPGLs) are rare neoplasms that, along with
pheochromocytomas and extra-adrenal paragangliomas, are associated with inherited …