Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
about
Current approaches and recent developments in the management of head and neck paragangliomas.Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young ageParagangliomas and paraganglioma syndromes.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Recent advances in the genetics of SDH-related paraganglioma and pheochromocytomaGenetic and clinical characteristics of head and neck paragangliomas in a Chinese population.Genetics of hereditary head and neck paragangliomas.Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.Management of multicentric paragangliomas: Review of 24 patients with 60 tumors.The Penetrance of Paraganglioma and Pheochromocytoma in SDHB germline mutation carriers.SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutationsLoss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.Illness perceptions, risk perception and worry in SDH mutation carriers.Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.Phenotype of SDHB mutation carriers in the Netherlands.Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.Mathematical modeling of disease dynamics in SDHB- and SDHD-related paraganglioma: Further step in understanding hereditary tumor differences and future therapeutic strategiesEvaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma
P2860
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P2860
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
description
2010 nî lūn-bûn
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2010 թուականին հրատարակուած գիտական յօդուած
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2010 թվականին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
@yue
2010年論文
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2010年論文
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2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
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name
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@ast
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@en
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@en-gb
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@nl
type
label
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@ast
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@en
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@en-gb
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@nl
prefLabel
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@ast
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@en
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@en-gb
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@nl
P2093
P2860
P356
P1433
P1476
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
@en
P2093
Annette H J T Vriends
Bert A Bonsing
Eleonora P M Corssmit
Frederik J Hes
Hans Morreau
Jean-Pierre L Bayley
Jeroen C Jansen
Johannes A Romijn
Marcel P M Stokkel
Marjan M Weiss
P2860
P2888
P356
10.1186/1471-2350-11-92
P407
P577
2010-01-01T00:00:00Z
P5875
P6179
1031295968