A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.
about
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.Human Metabolic Enzymes Deficiency: A Genetic Mutation Based ApproachInstability of succinate dehydrogenase in SDHD polymorphism connects reactive oxygen species production to nuclear and mitochondrial genomic mutations in yeastThe genetics of paragangliomas: a reviewThe 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 pathwayThe molecular basis of genetic dominanceMouse homologues of human hereditary disease.Review of statistical methodologies for the detection of parent-of-origin effects in family trio genome-wide association data with binary disease traits.Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeImprinting in Albright's hereditary osteodystrophyChromosomes, 11Q and cancer: a review.Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas)Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.Genetic analysis in the diagnosis of familial paragangliomas.Assessment of parent-of-origin effects in linkage analysis of quantitative traitsFounder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands.Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitizationFine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.Hereditary paragangliomas.Hereditary paraganglioma targets diverse paraganglia.Etiopathogenesis and clinical presentation of carotid body tumors.An update on the surgical treatment of temporal bone paraganglioma.SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromesHomozygotes for the autosomal dominant neoplasia syndrome (MEN1).Genetic analysis for early diagnosis of otorhinolaryngeal diseases.Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomasClinicoradiological manifestations of paraganglioma syndromes associated with succinyl dehydrogenase enzyme mutation.Genomic imprinting: mechanism and role in human pathology.Loss of heterozygosity and amplification on chromosome 11q in human ovarian cancer.Phaeochromocytoma: a catecholamine and oxidative stress disorder.Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.Familial carotid body tumours: is there a role for genetic screening?Familial pheochromocytomas and paragangliomas.Recent advances in the genetics of SDH-related paraganglioma and pheochromocytomaExpression of angiogenic growth factors in paragangliomas.Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.Genetics of familial and non-familial skull base tumours.Altered clinical course of glomus tympanicum - a case report
P2860
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P2860
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.
description
1992 nî lūn-bûn
@nan
1992 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
A gene subject to genomic impr ...... maps to chromosome 11q23-qter.
@ast
A gene subject to genomic impr ...... maps to chromosome 11q23-qter.
@en
A gene subject to genomic impr ...... maps to chromosome 11q23-qter.
@nl
type
label
A gene subject to genomic impr ...... maps to chromosome 11q23-qter.
@ast
A gene subject to genomic impr ...... maps to chromosome 11q23-qter.
@en
A gene subject to genomic impr ...... maps to chromosome 11q23-qter.
@nl
prefLabel
A gene subject to genomic impr ...... maps to chromosome 11q23-qter.
@ast
A gene subject to genomic impr ...... maps to chromosome 11q23-qter.
@en
A gene subject to genomic impr ...... maps to chromosome 11q23-qter.
@nl
P2093
P356
P1476
A gene subject to genomic impr ...... maps to chromosome 11q23-qter.
@en
P2093
Breedveld GJ
Cornelisse CJ
Sandkuijl LA
van Gils AP
van Ommen GJ
van Vliet M
van der Mey AG
P356
10.1093/HMG/1.1.7
P577
1992-04-01T00:00:00Z