Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry

Atypical Leiomyomas of the Uterus

(2013) Amy Ly et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Characterization of Uterine Leiomyomas by Whole-Genome Sequencing

(2013) Miika Mehine et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inhibition of Mitochondrial Aconitase by Succination in Fumarate Hydratase Deficiency

(2013) Nicola Ternette et al.   Cell Reports

Morphologic and Molecular Characteristics of Uterine Leiomyomas in Hereditary Leiomyomatosis and Renal Cancer (HLRCC) Syndrome

(2012) Julian Sanz-Ortega et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Cells Lacking the Fumarase Tumor Suppressor Are Protected from Apoptosis through a Hypoxia-Inducible Factor-Independent, AMPK-Dependent Mechanism

(2012) C. Bardella et al.   MOLECULAR AND CELLULAR BIOLOGY

A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer

(2012) Youfeng Yang et al.   Cancer Genetics

Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency

(2011) Amelia R. Mroch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Morphologic Features of Uterine Leiomyomas Associated With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome

(2011) Karuna Garg et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics

(2011) Heli J. Lehtonen   Familial Cancer

Structural basis of fumarate hydratase deficiency

(2011) Sarah Picaud et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

(2011) B. Gardie et al.   JOURNAL OF MEDICAL GENETICS

Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status

(2011) Chiara Bardella et al.   JOURNAL OF PATHOLOGY

Cutaneous papules, uterine fibroids, and renal cell cancer: one family's tale

(2010) Meltem Onder et al.   LANCET

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome

(2009) Pia Vahteristo et al.   Familial Cancer

Hyaline globules in paucicellular leiomyomas of the gastrointestinal tract are distinct from skeinoid fibers and represent degenerating smooth muscle cells

(2009) Abbas Agaimy et al.   PATHOLOGY RESEARCH AND PRACTICE

CANCER: Puzzling Patterns of Predisposition

(2009) P. J. Pollard et al.   SCIENCE

Single Base Mutation in the Fumarate Hydratase Gene Leading to Segmental Cutaneous Leiomyomatosis

(2008) E Huter et al.   ACTA DERMATO-VENEREOLOGICA

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency

(2008) Jean-Pierre Bayley et al.   BMC Medical Genetics

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

(2008) Taru Ahvenainen et al.   CANCER GENETICS AND CYTOGENETICS

Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene

(2008) Sadhanna Badeloe et al.   JOURNAL OF DERMATOLOGICAL SCIENCE