Associated Papers
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.
Sánchez-Heras AB et al.
Orphanet Journal of Rare Diseases, 2024
AKR1B10 Is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Zheng L et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023
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_ClinVar
Fumarate hydratase as a therapeutic target in renal cancer.
Kancherla P et al.
Expert Opinion on Therapeutic Targets, 2020
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL et al.
Clinical Genetics, 2011
Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.
Chuang GS et al.
Journal of the American Academy of Dermatology, 2005
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
Chan I et al.
Clinical and Experimental Dermatology, 2005
Solution structure of the LDL receptor EGF-AB pair: a paradigm for the assembly of tandem calcium binding EGF domains.
Saha S et al.
Structure (london, England : 1993), 2001
Select a paper to view details