Condition: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA


rs104894302 in SDHD gene and PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA PMID 22025150 2011 Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 12811540 2003 Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 25275255 2014 Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

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

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

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 16080474 2005 Carotid body paraganglioma and SDHD mutation in a Greek family.

PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 17973943 2008 Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

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

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

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

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

PMID 12509798 2003 A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.

PMID 18551016 2008 High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

PMID 12114404 2002 Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.

PMID 19075037 2009 Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.

PMID 23902947 2013 Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 15235042 2004 The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.

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

PMID 21937622 2011 Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

PMID 15479192 2004 SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

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

PMID 25494863 2015 Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

PMID 19584903 2010 The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.

rs104894305 in SDHD;TIMM8B gene and PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 17406045 2007 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.

PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

rs104894306 in TIMM8B;SDHD gene and PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

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

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 11605159 2001 The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

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

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

PMID 18211978 2008 Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 18561749 2008 W43X SDHD mutation in sporadic head and neck paraganglioma.

PMID 12111639 2002 Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

PMID 20098451 2010 Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 18826997 2008 Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

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

PMID 19072999 2009 Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

PMID 11323050 2001 Germline SDHD mutation in familial phaeochromocytoma.

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 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

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 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 11156372 2000 Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

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

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

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