Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.
about
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational familyThe 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.Monoallelic expression of the human H19 geneThe 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 pathwayGenomic imprinting: review and relevance to human diseases.Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytomaThe first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patientsSimilar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis.Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting femalesGenomic imprinting: concept and clinical consequences.First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas)Genomic imprinting and chromatin insulation in Beckwith-Wiedemann syndrome.SDH-related pheochromocytoma and paraganglioma.Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands.Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.Hereditary paragangliomas.The history of the glomus tumors - nonchromaffim chemodectoma: a glimpse of biomedical Camelot.Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.Hereditary paraganglioma targets diverse paraganglia.Etiopathogenesis and clinical presentation of carotid body tumors.SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromesPheochromocytoma: the expanding genetic differential diagnosis.Genomic imprinting at a boundary element flanking the SDHD locusPrevalence 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.Differential loss of chromosome 11q in familial and sporadic parasympathetic paragangliomas detected by comparative genomic hybridizationSearch for unstable DNA in schizophrenia families with evidence for genetic anticipationDNA flow cytometry of hereditary and sporadic paragangliomas (glomus tumours).MRI screening of kindred at risk of developing paragangliomas: support for genomic imprinting in hereditary glomus tumours.Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty.Classification and management of cervical paragangliomas.Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1Update on pediatric pheochromocytoma.Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2The approach to the patient with paraganglioma.A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.Approaches to genetic counseling.
P2860
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P2860
Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh
1989年學術文章
@zh-hant
name
Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.
@en
type
label
Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.
@en
prefLabel
Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.
@en
P2093
P1433
P1476
Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory.
@en
P2093
A G van der Mey
C J Cornelisse
J J van de Kamp
P D Maaswinkel-Mooy
P H Schmidt
P304
P356
10.1016/S0140-6736(89)91908-9
P407
P577
1989-12-01T00:00:00Z