Associated Papers
Integrated genetic and clinical investigation of autosomal dominant hereditary uterine leiomyomas: genotype-phenotype correlation in a pakistani family.
Ullah A et al.
Molecular Biology Reports, 2026
Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis.
Wang H et al.
Human Genomics, 2025
Morphological analysis of peritoneal fluid in fumarate hydratase deficiency-associated renal cell carcinoma: a case report.
Du Y et al.
Frontiers in Oncology, 2025
Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.
Dagli-Hernandez C et al.
Pharmaceutics, 2022
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
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
Kopp RP et al.
Cancer, 2017
A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma.
Smith SC et al.
Histopathology, 2017
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Reyes C et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2014
Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome.
Sanz-Ortega J et al.
The American Journal of Surgical Pathology, 2013
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
Gardie B et al.
Journal of Medical Genetics, 2011
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
Heinritz W et al.
Annals of Human Genetics, 2008
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Wei MH et al.
Journal of Medical Genetics, 2006
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Alam NA et al.
The Journal of Molecular Diagnostics : Jmd, 2005
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
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Alam NA et al.
Human Molecular Genetics, 2003