Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume 17, Issue 8, Pages 610-620
Publisher
Springer Nature
Online
2014-11-14
DOI
10.1038/gim.2014.162
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Succinate Dehydrogenase Deficiency Is Rare in Pituitary Adenomas
- (2014) Anthony J. Gill et al. AMERICAN JOURNAL OF SURGICAL PATHOLOGY
- Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad
- (2014) Florian Haller et al. ENDOCRINE-RELATED CANCER
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- A Conditional Mouse Mutant in the Tumor Suppressor SdhD Gene Unveils a Link between p21WAF1/Cip1 Induction and Mitochondrial Dysfunction
- (2014) África Millán-Uclés et al. PLoS One
- Immunohistochemical Loss of Succinate Dehydrogenase Subunit A (SDHA) in Gastrointestinal Stromal Tumors (GISTs) Signals SDHA Germline Mutation
- (2013) Markku Miettinen et al. AMERICAN JOURNAL OF SURGICAL PATHOLOGY
- The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia
- (2013) John R. Srigley et al. AMERICAN JOURNAL OF SURGICAL PATHOLOGY
- SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma
- (2013) Eric Letouzé et al. CANCER CELL
- Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis
- (2013) Thomas G Papathomas et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Mutation screening in a Norwegian cohort with pheochromocytoma
- (2013) Wenche Sjursen et al. Familial Cancer
- Gastrointestinal stromal tumours: from KIT to succinate dehydrogenase
- (2013) Leona A Doyle et al. HISTOPATHOLOGY
- Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas
- (2013) Luis Jaime Castro-Vega et al. HUMAN MOLECULAR GENETICS
- FamilialSDHAMutation Associated With Pituitary Adenoma and Pheochromocytoma/Paraganglioma
- (2013) Trisha Dwight et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Succinate Dehydrogenase Mutation Underlies Global Epigenomic Divergence in Gastrointestinal Stromal Tumor
- (2013) J. Keith Killian et al. Cancer Discovery
- Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors
- (2013) Martin G. Belinsky Frontiers in Oncology
- Mutations in the Isocitrate Dehydrogenase Genes IDH1 and IDH2 in Tumors
- (2012) Frank G. Schaap et al. ADVANCES IN ANATOMIC PATHOLOGY
- Loss of SDHA Expression Identifies SDHA Mutations in Succinate Dehydrogenase–deficient Gastrointestinal Stromal Tumors
- (2012) Trisha Dwight et al. AMERICAN JOURNAL OF SURGICAL PATHOLOGY
- The role of complex II in disease
- (2012) Attje S. Hoekstra et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors
- (2012) Antoine Italiano et al. BMC CANCER
- Carney Stratakis Syndrome in a Patient with SDHD Mutation
- (2012) Carmen Tenorio Jiménez et al. ENDOCRINE PATHOLOGY
- Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects?
- (2012) Paraskevi Xekouki et al. ENDOCRINE-RELATED CANCER
- Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3
- (2012) Angelica Malinoc et al. ENDOCRINE-RELATED CANCER
- Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation ofSDHAin wild-type SDHB-negative gastrointestinal stromal tumors
- (2012) Martin G. Belinsky et al. GENES CHROMOSOMES & CANCER
- Epithelial to Mesenchymal Transition Is Activated in Metastatic Pheochromocytomas and Paragangliomas Caused bySDHBGene Mutations
- (2012) Céline Loriot et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency
- (2012) Charlotte L Alston et al. JOURNAL OF MEDICAL GENETICS
- Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors
- (2012) Andrew J Wagner et al. MODERN PATHOLOGY
- SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors
- (2012) Lindsey Oudijk et al. MODERN PATHOLOGY
- Somatic Mutation Analysis of the SDHB, SDHC, SDHD, and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma
- (2012) Alexander Weber et al. Hormones & Cancer
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney–Stratakis dyad
- (2011) Ricardo Celestino et al. Familial Cancer
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- Pancreatic Ductal and Acinar Cell Neoplasms in Carney Complex: A Possible New Association
- (2011) Sébastien Gaujoux et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- SDHA Immunohistochemistry Detects GermlineSDHAGene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas
- (2011) Esther Korpershoek et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link toSDHBMutations
- (2011) Kathryn S. King et al. JOURNAL OF CLINICAL ONCOLOGY
- SDHA Loss-of-Function Mutations in KIT-PDGFRA Wild-Type Gastrointestinal Stromal Tumors Identified by Massively Parallel Sequencing
- (2011) M. A. Pantaleo et al. JNCI-Journal of the National Cancer Institute
- Germline BAP1 mutations and tumor susceptibility
- (2011) Alisa M Goldstein NATURE GENETICS
- Revisiting the TCA cycle: signaling to tumor formation
- (2011) Nuno Raimundo et al. TRENDS IN MOLECULAR MEDICINE
- IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders
- (2010) Yang Zou et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
- (2010) Frederik J Hes et al. BMC Medical Genetics
- Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene
- (2010) Yohmi Oishi et al. ENDOCRINE JOURNAL
- Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase
- (2010) Aviva Levitas et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma
- (2010) Juan Cadiñanos et al. HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
- SDHA is a tumor suppressor gene causing paraganglioma
- (2010) Nelly Burnichon et al. HUMAN MOLECULAR GENETICS
- Bilateral Adrenal Medullary Hyperplasia Associated With an SDHB Mutation
- (2010) Raymon H. Grogan et al. JOURNAL OF CLINICAL ONCOLOGY
- Subtle variations in Pten dose determine cancer susceptibility
- (2010) Andrea Alimonti et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
- (2010) S. A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Penetrance and clinical consequences of a grossSDHBdeletion in a large family
- (2009) DC Solis et al. CLINICAL GENETICS
- SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes
- (2009) B. Pasini et al. JOURNAL OF INTERNAL MEDICINE
- An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis
- (2009) Francien H van Nederveen et al. LANCET ONCOLOGY
- SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
- (2009) Daniele Ghezzi et al. NATURE GENETICS
- IDH1andIDH2Mutations in Gliomas
- (2009) Hai Yan et al. NEW ENGLAND JOURNAL OF MEDICINE
- Sdhd and Sdhd/H19 Knockout Mice Do Not Develop Paraganglioma or Pheochromocytoma
- (2009) Jean-Pierre Bayley et al. PLoS One
- SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
- (2009) H.-X. Hao et al. SCIENCE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More