Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations - Wikidata - wikimedia - TriplyDB

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

http://www.wikidata.org/entity/Q28278673

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Pheochromocytomas and secreting paragangliomas Low penetrance of a SDHB mutation in a large Dutch paraganglioma family SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches Succinate Dehydrogenase Loss in Familial Paraganglioma: Biochemistry, Genetics, and Epigenetics 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5 Head and neck paragangliomas: clinical and molecular genetic classification The metabolic basis of kidney cancer An update on the genetics of pheochromocytoma Glycolysis inhibition for anticancer treatment Mitochondrial tumour suppressors: a genetic and biochemical update The genetics of paragangliomas: a review Connecting molecular pathways to hereditary cancer risk syndromes Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Distinct expression of galectin-3 in pheochromocytomas.Risk-oriented approach to hereditary adrenal pheochromocytoma.Paragangliomas of the Head & Neck: the KMC experience.Warburg effect's manifestation in aggressive pheochromocytomas and paragangliomas: insights from a mouse cell model applied to human tumor tissue.The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis.Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.Paraganglioma of the endolarynx: a rare tumor in an uncommon location.Paragangliomas/Pheochromocytomas: clinically oriented genetic testing SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.Succinate dehydrogenase - Assembly, regulation and role in human disease.Using genetics and genomics strategies to personalize therapy for cancer: focus on melanoma The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).Behavior, brain, and genome in genomic disorders: finding the correspondences.A case of (123)I-MIBG scintigram-negative functioning pheochromocytoma: immunohistochemical and molecular analysis with review of literature Molecular diagnosis and therapy of kidney cancer.Renal cell carcinoma in tuberous sclerosis complex.The genetic basis of kidney cancer: a metabolic disease SDH-related pheochromocytoma and paraganglioma.Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome.

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P2860

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

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2004 nî lūn-bûn

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2004 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2004 թվականի օգոստոսին հրատարակված գիտական հոդված

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Distinct clinical features of ...... h SDHB and SDHD gene mutations

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Distinct clinical features of ...... h SDHB and SDHD gene mutations

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Andrzej Januszewicz

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Birke Bausch

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Carsten C Boedeker

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