Associated Papers
Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.
Gao L et al.
Genes, 2024
Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis.
Naseripour M et al.
Ophthalmic Genetics, 2023
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A et al.
Human Mutation, 2022
35475554 (PubMed )
Supplement: HUMU-43-1268-s002.xlsx › Data_1
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
Usefulness of Succinate dehydrogenase B (SDHB) immunohistochemistry in guiding mutational screening among patients with pheochromocytoma-paraganglioma syndromes.
Pai R et al.
Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 2014
Genetic screening for von Hippel-Lindau gene mutations in non-syndromic pheochromocytoma: low prevalence and false-positives or misdiagnosis indicate a need for caution.
Eisenhofer G et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2012
Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease.
Boaz RJ et al.
Indian Journal of Endocrinology and Metabolism, 2011
Neurofibromatosis 1 with pheochromocytoma.
Hari Kumar KV et al.
Indian Journal of Endocrinology and Metabolism, 2011
Select a paper to view details