Associated Papers
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?
Branzoli F et al.
Endocrine-related Cancer, 2023
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.
Loughrey PB et al.
Endocrine-related Cancer, 2022
Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome?
Dolina J et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2022
Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation.
Kamai T et al.
Bmc Cancer, 2022
Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.
Qian H et al.
Frontiers in Genetics, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
High throughput proteomic and metabolic profiling identified target correction of metabolic abnormalities as a novel therapeutic approach in head and neck paraganglioma.
Wang Z et al.
Translational Oncology, 2021
[Correlation between the expression defects of succinate dehydrogenase subunit protein and its gene mutation in succinate dehydrogenase-deficient gastrointestinal stromal tumors].
Zhang YJ et al.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2021
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.
Khan S et al.
Bmc Research Notes, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.
Niwinska A et al.
Diagnostics (basel, Switzerland), 2020
Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report.
Chen H et al.
Bmc Medical Genetics, 2020
Temozolomide Is a Potential Therapeutic Tool for Patients With Metastatic Pheochromocytoma/Paraganglioma-Case Report and Review of the Literature.
Tong A et al.
Frontiers in Endocrinology, 2020
The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.
Xekouki P et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019
The loss of succinate dehydrogenase B expression is frequently identified in hemangioblastoma of the central nervous system.
Roh TH et al.
Scientific Reports, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Aggressive Imaging Features in a Malignant Pheochromocytoma With a Novel Mutation of the SDHB Gene.
Park SA et al.
Clinical Nuclear Medicine, 2017
Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.
DU ZF et al.
Journal of Biosciences, 2017
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
Bennedbæk M et al.
Hereditary Cancer in Clinical Practice, 2016
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
Sun Y et al.
The Canadian Journal of Cardiology, 2015
Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma.
Efstathiadou ZA et al.
Head & Neck, 2014
Genetic and clinical characteristics of head and neck paragangliomas in a Chinese population.
Zheng X et al.
The Laryngoscope, 2012
cDNA microarray analysis assists in diagnosis of malignant intrarenal pheochromocytoma originally masquerading as a renal cell carcinoma.
Takahashi M et al.
Journal of Medical Genetics, 2005
Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma.
McWhinney SR et al.
The Journal of Clinical Endocrinology and Metabolism, 2004