×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
GeneticVariation
disease
CLINVAR
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
30050099
2019
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
GeneticVariation
disease
CLINVAR
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.
28300276
2017
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
28747166
2017
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.
28300276
2017
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
GeneticVariation
disease
BEFREE
Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency , resulting in timely and possibly life-saving treatment.
28747166
2017
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Isolated cutaneous leiomyosarcoma revealing a novel germline mutation of the fumarate hydratase gene.
25913776
2016
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
GeneticVariation
disease
CLINVAR
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
26574848
2016
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism.
27037871
2016
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
GeneticVariation
disease
CLINVAR
Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism.
27037871
2016
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
An unusual case of sporadic hereditary leiomyomatosis and renal cell carcinoma syndrome.
25750977
2015
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
26457356
2015
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
25923021
2015
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Hereditary leiomyomatosis associated with renal cell carcinoma.
25477250
2015
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Germline FH mutations presenting with pheochromocytoma.
25004247
2014
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.
24441663
2014
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
25292446
2014
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
GeneticVariation
disease
CLINVAR
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
22764886
2013
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
GeneticVariation
disease
CLINVAR
Fumarase deficiency in dichorionic diamniotic twins.
24182348
2013
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
GeneticVariation
disease
CLINVAR
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
23612258
2013
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome.
22565324
2012
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome.
22127509
2012
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
GeneticVariation
disease
CLINVAR
Mild fumarase deficiency and a trial of low protein diet.
22595425
2012
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
GeneticVariation
disease
CLINVAR
Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.
22069215
2012
×
Entrez Id:
2271
Gene Symbol:
FH
FH
0.740
CausalMutation
disease
CLINVAR
JAAD Grand Rounds quiz. A 46-year-old man with agminated papules on the buttock. Reed syndrome.
22243733
2012