A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. - Wikidata - awgldk - TriplyDB

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.

http://www.wikidata.org/entity/Q34231304

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 Approach Instability of succinate dehydrogenase in SDHD polymorphism connects reactive oxygen species production to nuclear and mitochondrial genomic mutations in yeast The genetics of paragangliomas: a review 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 The molecular basis of genetic dominance Mouse 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 syndrome Imprinting in Albright's hereditary osteodystrophy Chromosomes, 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 traits Founder 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 sensitization Fine 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 syndromes Homozygotes 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 paragangliomas Clinicoradiological 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 pheochromocytoma Expression 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.

http://www.wikidata.org/entity/Q34231304

description

1992 nî lūn-bûn

@nan

1992 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

1992 թվականի ապրիլին հրատարակված գիտական հոդված

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1992年の論文

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1992年論文

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1992年論文

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1992年論文

@zh-hk

1992年論文

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1992年論文

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1992年论文

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name

A gene subject to genomic impr ...... maps to chromosome 11q23-qter.

@ast

A gene subject to genomic impr ...... maps to chromosome 11q23-qter.

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A gene subject to genomic impr ...... maps to chromosome 11q23-qter.

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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.

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A gene subject to genomic impr ...... maps to chromosome 11q23-qter.

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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.

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P1433

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P1433

Human Molecular Genetics

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A gene subject to genomic impr ...... maps to chromosome 11q23-qter.

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P2093

Bardoel A

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Breedveld GJ

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Cornelisse CJ

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Heutink P

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Oostra BA

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Sandkuijl LA

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van Gils AP

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van Ommen GJ

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van Vliet M

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van der Mey AG

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7-10

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scholarly article

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10.1093/HMG/1.1.7

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1

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P478

1

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1992-04-01T00:00:00Z

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P698

1301144

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