Associated Papers
Succinate Dehydrogenase A-Deficient Renal Cell Carcinoma with Predominantly Papillary Structures: A Case Report and Review of the Literature.
Liu X et al.
International Journal of Surgical Pathology, 2025
Precision proteogenomics reveals pan-cancer impact of germline variants.
Martins Rodrigues F et al.
Cell, 2025
Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.
Miolo G et al.
International Journal of Molecular Sciences, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
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
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
Schipani A et al.
Genes, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
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
Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.
Kamai T et al.
Cancer Science, 2021
Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?
Chang TY et al.
Diagnostics (basel, Switzerland), 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 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
Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.
Li X et al.
Medicine, 2020
Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.
Nicolas E et al.
Molecular Genetics & Genomic Medicine, 2019
Combined Proteomic-Molecular Epidemiology Approach to Identify Precision Targets in Brain Cancer.
Mostovenko E et al.
Acs Chemical Neuroscience, 2018
Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance.
Bannon AE et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Utility of the succinate: Fumarate ratio for assessing SDH dysfunction in different tumor types.
Kim E et al.
Molecular Genetics and Metabolism Reports, 2017
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.
Evenepoel L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Molecular diagnostics of a single drug-resistant multiple myeloma case using targeted next-generation sequencing.
Ikeda H et al.
Oncotargets and Therapy, 2015
A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.
Jiang Q et al.
International Journal of Clinical and Experimental Pathology, 2015
Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.
Miettinen M et al.
The International Journal of Biochemistry & Cell Biology, 2014
Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors.
Baysal BE
Biochimica Et Biophysica Acta, 2013
Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.
Dwight T et al.
The American Journal of Surgical Pathology, 2013
Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.
Belinsky MG et al.
Frontiers in Oncology, 2013
[Single nucleotide polymorphisms of the genes related with spermatogenesis impairment].
Ying HQ et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 2011
The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications.
Stratakis CA et al.
Journal of Internal Medicine, 2009
Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.
Bonache S et al.
International Journal of Andrology, 2007
Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA.
Baysal BE et al.
Bmc Biology, 2007