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。Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility
Dewi Astuti et al.
ENDOCRINE-RELATED CANCER (2011)
von Hippel-Lindau disease: A clinical and scientific review
Eamonn R. Maher et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Multiple endocrine neoplasia type 2: An overview
Jessica Moline et al.
GENETICS IN MEDICINE (2011)
Germline Mutations of the TMEM127 Gene in Patients with Paraganglioma of Head and Neck and Extraadrenal Abdominal Sites
Hartmut P. H. Neumann et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
SDHA Immunohistochemistry Detects Germline SDHA Gene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas
Esther Korpershoek et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
Inaki Comino-Mendez et al.
NATURE GENETICS (2011)
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
Katherine A. Janeway et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Common alleles of predisposition in endocrine neoplasia
Charis Eng
CURRENT OPINION IN GENETICS & DEVELOPMENT (2010)
Clinical and genetic aspects of neurofibromatosis 1
Kimberly Jett et al.
GENETICS IN MEDICINE (2010)
SDHA is a tumor suppressor gene causing paraganglioma
Nelly Burnichon et al.
HUMAN MOLECULAR GENETICS (2010)
Massively Parallel Sequencing of Ataxia Genes after Array-Based Enrichment
Alexander Hoischen et al.
HUMAN MUTATION (2010)
Are We Overestimating the Penetrance of Mutations in SDHB?
Francesca Schiavi et al.
HUMAN MUTATION (2010)
Tumor Risks and Genotype-Phenotype-Proteotype Analysis in 358 Patients With Germline Mutations in SDHB and SDHD
Christopher J. Ricketts et al.
HUMAN MUTATION (2010)
Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas
Li Yao et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2010)
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
Jean-Pierre Bayley et al.
LANCET ONCOLOGY (2010)
Research Resource: Transcriptional Profiling Reveals Different Pseudohypoxic Signatures in SDHB and VHL-Related Pheochromocytomas
Elena Lopez-Jimenez et al.
MOLECULAR ENDOCRINOLOGY (2010)
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
Yuejuan Qin et al.
NATURE GENETICS (2010)
Clinical Predictors and Algorithm for the Genetic Diagnosis of Pheochromocytoma Patients
Zoran Erlic et al.
CLINICAL CANCER RESEARCH (2009)
Developmental Abnormalities and Cancer Predisposition in Neurofibromatosis Type 1
Lidia Larizza et al.
CURRENT MOLECULAR MEDICINE (2009)
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma
Henri J. L. M. Timmers et al.
ENDOCRINE-RELATED CANCER (2009)
Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2
Carsten C. Boedeker et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
The Succinate Dehydrogenase Genetic Testing in a Large Prospective Series of Patients with Paragangliomas
Nelly Burnichon et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
Huai-Xiang Hao et al.
SCIENCE (2009)
A germline mutation of the KIF1Bβ gene on 1p36 in a family with neural and nonneural tumors
I-Tien Yeh et al.
HUMAN GENETICS (2008)
KIF1Bβ functions as a haploinsufficient tumor suppressor gene mapped to chromosome 1p36.2 by inducing apoptotic cell death
Arasambattu K. Munirajan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation
Pascal Pigny et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Maternal transmission of symptomatic disease with SDHD mutation:: Fact or fiction?
Hartmut P. H. Neumann et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Germline SDHB mutations and familial renal cell carcinoma
Christopher Ricketts et al.
JOURNAL OF THE NATIONAL CANCER INSTITUTE (2008)
Brief Report: PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma
Charline Ladroue et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation
Mariola Peczkowska et al.
NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM (2008)
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
Barbara Pasini et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas
Laurence Amar et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Evidence of MEN-2 in the original description of classic pheochromocytoma
Hartmut P. H. Neumann et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Genetic screening for pheochromocytoma:: should SDHC gene analysis be included?
M. Mannelli et al.
JOURNAL OF MEDICAL GENETICS (2007)
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1
Birke Bausch et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Genotype-phenotype correlations in von Hippel-Lindau disease
Kai Ren Ong et al.
HUMAN MUTATION (2007)
Phaeochromocytoma, new genes and screening strategies
Anne-Paule Gimenez-Roqueplo et al.
CLINICAL ENDOCRINOLOGY (2006)
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia
Taranjit S. Gujral et al.
CANCER RESEARCH (2006)
High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas:: Implications for genetic testing
Frederieke M. Brouwers et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Expression of HIF-1α, HIF-2α (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations
Patrick J. Pollard et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma
Birke Bausch et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Genetic testing in pheochromocytoma or functional paraganglioma
L Amar et al.
JOURNAL OF CLINICAL ONCOLOGY (2005)
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
F Schiavi et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (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)
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)
Germ-line mutations in nonsyndromic pheochromocytoma.
HPH Neumann et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
D Astuti et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Germline SDHD mutation in familial phaeochromocytoma
D Astuti et al.
LANCET (2001)
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
BE Baysal et al.
SCIENCE (2000)
分享论文
