Associated Papers
Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.
Michaeli O et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model.
Ferris S et al.
Genetics in Medicine Open, 2025
Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.
Orrego JJ et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2024
Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase.
Aminian S et al.
Case Reports in Genetics, 2024
Case report: Exploring Lynch Syndrome through genomic analysis in a mestizo Ecuadorian patient and his brother.
Guevara-Ramírez P et al.
Frontiers in Medicine, 2024
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_BRAVO
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel
Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.
Palsgrove DN et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
29973652 (PubMed )
Supplement: NIHMS972465-supplement-1.xlsx › CASE_13
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