Condition: PARAGANGLIOMAS 4


rs1060503751 in SDHB gene and PARAGANGLIOMAS 4 PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 23072324 2013 Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 23083876 2012 Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 18362451 2008 R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis.

PMID 12618761 2003 Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

PMID 17102082 2006 Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

PMID 14500403 2003 Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

PMID 23282968 2013 Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

PMID 19802898 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 18382370 2008 Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

PMID 23934599 2014 Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families.

PMID 17652212 2007 Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.

PMID 20208144 2010 Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

PMID 22835832 2012 Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.

PMID 25873086 2015 Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma.

PMID 26273102 2015 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

PMID 7143317 1982 How general practitioners manage depressive illness: developing a method of audit.

PMID 18753105 2009 Familial paragangliomas: case report and literature review.

PMID 22972948 2012 Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

PMID 27604842 2017 Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

PMID 26642834 2016 Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

PMID 26925370 2015 Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.

PMID 19189136 2009 Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening?

PMID 20583550 2010 Early presentation of familial paraganglioma with SDHB mutation in a 13 year old child and its mother.

PMID 20503330 2010 Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

PMID 18840642 2008 Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.

PMID 26236513 2015 Paraganglioma Presenting as Postpartum Fever of Unknown Origin.

PMID 22270996 2012 Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden.

PMID 19927285 2010 Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma.

PMID 16912137 2006 High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

PMID 19576851 2009 An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

PMID 17200167 2007 Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

PMID 27549546 2016 Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation.

PMID 17143317 2006 A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene.

PMID 19184535 2009 SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.

PMID 21173220 2011 Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

PMID 20119652 2010 Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.

PMID 16405730 2006 Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

PMID 20540712 2010 Low penetrance of a SDHB mutation in a large Dutch paraganglioma family.

PMID 19411806 2009 Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4.

PMID 25047027 2014 Phenotype of SDHB mutation carriers in the Netherlands.

PMID 19825962 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 26267327 2015 Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population.

PMID 1980289 1990 The effect of some anti-inflammatory agents on elastase release from neutrophils in-vitro.

PMID 2308387 1990 Age-related changes of the ciliary muscle in comparison with changes induced by treatment with prostaglandin F2 alpha. An ultrastructural study in rhesus and cynomolgus monkeys.

PMID 24436918 2013 Genetic testing in head and neck paraganglioma: who, what, and why?

PMID 27539324 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

PMID 24939699 2015 [Intrapericardical paraganglioma associated with mutation in succinate dehydrogenase enzyme gene].

PMID 26259135 2015 Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

PMID 24509376 2014 SDHB gene mutation in a carotid body paraganglioma: case report and review of the paraganglioma syndromes.

PMID 25405498 2015 SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.

PMID 20592014 2010 Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma.

PMID 20614293 2008 Hereditary paraganglioma of the nasopharynx.

PMID 25695889 2015 Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

PMID 16472267 2006 An apparently sporadic paraganglioma with an SDHB gene germline mutation presenting at age 68 years.

PMID 20418362 2010 Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

PMID 20459544 2010 Renal carcinoma with giant mitochondria associated with germ-line mutation and somatic loss of the succinate dehydrogenase B gene.

PMID 18419787 2008 Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.

PMID 17667967 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.

PMID 23666964 2013 A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

PMID 21934479 2011 Renal tumors associated with germline SDHB mutation show distinctive morphology.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 24466223 2014 Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

PMID 11404820 2001 Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

PMID 14974914 2003 Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 20816580 2010 Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 14715873 2004 A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 25972245 2015 Structural and functional consequences of succinate dehydrogenase subunit B mutations.

PMID 25736212 2015 Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 23797725 2013 Identification of succinate dehydrogenase-deficient bladder paragangliomas.

PMID 18728283 2008 Germline SDHB mutations and familial renal cell carcinoma.

PMID 28738844 2017 Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.

PMID 28490599 2017 The phenotype of SDHB germline mutation carriers: a nationwide study.

PMID 24523625 2014 Pheochromocytoma and paraganglioma syndromes: genetics and management update.

PMID 24694336 2014 Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

PMID 26719882 2016 SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 24659481 2014 Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma.

PMID 17308434 2007 Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.

PMID 16916404 2006 Gastrointestinal stromal tumour in succinate dehydrogenase subunit B mutation-associated familial phaeochromocytoma/paraganglioma.

PMID 19001511 2009 Rationale and evidence for sunitinib in the treatment of malignant paraganglioma/pheochromocytoma.

PMID 15987702 2005 Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

PMID 19215943 2009 Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.

PMID 25683602 2015 Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.

PMID 21820839 2012 Contiguous bilateral head and neck paragangliomas in a carrier of the SDHB germline mutation.

PMID 25298897 2014 SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes.

PMID 16304664 2006 Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 25130709 2014 Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report.

PMID 17102086 2006 Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas.

PMID 1523504 1992 Effects of compression on physiologic integrity of the spinal cord, on circulation, and clinical status in four different directions of compression: posterior, anterior, circumferential, and lateral.

PMID 19694205 2009 Ischemic stroke and rhabdomyolysis in a 15-year-old girl with paraganglioma due to an SDHB exon 6 (Q214X) mutation.

PMID 17943698 2007 Relapsing pheochromocytoma in a Chinese women caused by a novel mutation in exon 6 of the SDHB gene: a case report.