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
Integrated morphological, immunohistochemical, and genomic profiling identifies uterine leiomyoma patients with hereditary leiomyomatosis and renal cell cancer syndrome: a comprehensive analysis of 252 cases.
Liu Y et al.
The Journal of Pathology, 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
Prospective Fumarate Hydratase Tumor Predisposition Syndrome Screening in Patients With Uterine Smooth Muscle Tumors: Age, Morphology, Fumarate Hydratase/S-(2-succino) Cysteine Immunohistochemistry, and Germline Testing.
McHenry A et al.
The American Journal of Surgical Pathology, 2025
Case report: response to immunotherapy and association with the fh gene in hereditary leiomyomatosis and renal cell cancer-associated renal cell cancer.
Gao F et al.
Bmc Medical Genomics, 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
Morphologic Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors.
McMurtry V et al.
American Journal of Clinical Pathology, 2023
Fumarate inhibits PTEN to promote tumorigenesis and therapeutic resistance of type2 papillary renal cell carcinoma.
Ge X et al.
Molecular Cell, 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
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Chakravorty S et al.
Scientific Reports, 2020
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome.
Raymond VM et al.
Familial Cancer, 2012
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics.
Lehtonen HJ
Familial Cancer, 2011
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL et al.
Clinical Genetics, 2011
Fumaric aciduria: an overview and the first Brazilian case report.
Allegri G et al.
Journal of Inherited Metabolic Disease, 2010
Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.
Parmentier L et al.
Dermatology (basel, Switzerland), 2010
Dermatologists might be the first to suspect hereditary leiomyomatosis and renal cell carcinoma syndrome.
González-Guerra E et al.
Anais Brasileiros De Dermatologia, 0