302 results on '"Burnichon, Nelly"'
Search Results
2. Measuring and correcting staff variability in large-scale OSCEs
3. MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma
4. Minors at risk of von Hippel-Lindau disease: 10 years’ experience of predictive genetic testing and follow-up adherence
5. Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1
6. MET alterations in biphasic squamoid alveolar papillary renal cell carcinomas and clinicopathological features
7. International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
8. An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma
9. Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma—a retrospective and prospective study
10. EPAS1‐mutated paragangliomas associated with haemoglobin disorders
11. Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries
12. Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas
13. Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
14. Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
15. Pheochromocytoma: When to search a germline defect?
16. Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
17. Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation
18. Data from Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma
19. Supplementary data from In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma
20. Data from Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas
21. Supplementary Figures 1 - 3 from MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
22. Supplementary Data from Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma
23. Table S4 from Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas
24. supplementary file data from Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas
25. SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?
26. Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis
27. In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis
28. Consensus on molecular imaging and theranostics in neuroendocrine neoplasms
29. Long‐Term Outcomes in Head and Neck Paragangliomas Managed with Intensity‐Modulated Radiotherapy
30. SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma
31. International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma
32. Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1
33. Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
34. Long‐Term Outcomes in Head and Neck Paragangliomas Managed with Intensity‐Modulated Radiotherapy.
35. Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I
36. Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
37. Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time
38. Genetic Spectrum in a Canadian Cohort of Apparently Sporadic Pheochromocytomas and Paragangliomas (PPGLs): New Data on Multigene Panel Retesting Over Time
39. International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma
40. Germline MET pathogenic variants in papillary renal cell carcinomas type I: specific phenotype in French population and novel germline pathogenic variant MET c.3389T>C, p.(Leu1130Ser)
41. Rationale for Anti-angiogenic Therapy in Pheochromocytoma and Paraganglioma
42. Overexpression of miR‐483‐5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma
43. Apports de COMETE à la génétique du phéochromocytome
44. A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia?
45. Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time.
46. Quantitative evidence evaluation for singleton rare missense variants in rare distinctive adult-onset phenotypes: the exemplar of SDHB and SDHD
47. Sino-European Differences in the Genetic Landscape and Clinical Presentation of Pheochromocytoma and Paraganglioma
48. Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine Practice
49. Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma
50. Epithelial to Mesenchymal Transition Is Activated in Metastatic Pheochromocytomas and Paragangliomas Caused by SDHB Gene Mutations
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.