Associated Papers
Genomic profiles of renal cell carcinoma in a small Chinese cohort.
Tai S et al.
Frontiers in Oncology, 2023
37427096 (PubMed )
Supplement: Table_1.xls › Sheet1
A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.
Yagi Y et al.
Human Genome Variation, 2022
35034951 (PubMed )
Supplement: 41439_2021_180_MOESM1_ESM.pdf
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.
Kamai T et al.
Cancer Science, 2021
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
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.
Yonamine T et al.
Urology Case Reports, 2020
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Zhang L et al.
Human Mutation, 2020
Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.
da Cunha IW et al.
Virchows Archiv : an International Journal of Pathology, 2018
Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.
Carlo MI et al.
Jama Oncology, 2018
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
Kubinova K et al.
The Journal of Obstetrics and Gynaecology Research, 2013
Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.
Tolvanen J et al.
Human Reproduction (oxford, England), 2012
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL et al.
Clinical Genetics, 2011
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
Bayley JP et al.
Bmc Medical Genetics, 2008
Select a paper to view details