相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
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Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations
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Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes
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Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
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Increased risk of cancer in patients with fumarate hydratase germline mutation
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Neuronal apoptosis linked to EgIN3 prolyl hydroxylase and familial pheochromocytoma genes: Developmental culling and cancer
S Lee et al.
CANCER CELL (2005)
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
HPH Neumann et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2004)
Von Hippel-Lindau disease
ER Maher
CURRENT MOLECULAR MEDICINE (2004)
Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma
MR Morris et al.
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Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
S Vanharanta et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations (vol 292, pg 943, 2004)
HPH Neumann
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2004)
Searching for the hereditary causes of renal-cell carcinoma
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NATURE REVIEWS CANCER (2004)
Inhibition of HIF2 alpha is sufficient to suppress pVHL-defective tumor growth
K Kondo et al.
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Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma
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Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome
ML Nickerson et al.
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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
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Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
D Astuti et al.
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Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease
SC Clifford et al.
HUMAN MOLECULAR GENETICS (2001)
Germline SDHD mutation in familial phaeochromocytoma
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Mutations in SDHC cause autosomal dominant paraganglioma, type 3
S Niemann et al.
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Familial clear cell renal cell carcinoma (FCRC):: clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes
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