Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes
Identifieur interne : 000531 ( Istex/Curation ); précédent : 000530; suivant : 000532Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes
Auteurs : C. Gicquel [France] ; J. Weiss [Australie] ; J. Amiel [France] ; V. Gaston [France] ; Y. Le Bouc [France] ; C D Scott [Australie]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2004-01.
Descripteurs français
- Wicri :
- topic : étiquetage.
English descriptors
- KwdEn :
- Abnormality, Affinity labelling, Allele, Antisense, Assay, BWS, Beckwith-Wiedemann syndrome, Barlow, Beckwithwiedemann syndrome, Bisulphite, Bisulphite restriction analysis, Blood cells, Clin, Clin endocrinol metab, Control subject, Control subjects, DMR, differential methylated region, Demethylation, Different tissues, Dmr1, Dmr2, Dmr2 methylation, Endocrinol, Epigenetic, Epigenetic modifications, Fetal, Fetal overgrowth, Genet, Gicquel, Gpc3, Growth factor, IGF-II, methylation, Igf2, Igf2 affinity labelling, Igf2 binding, Igf2 binding assay, Igf2r, Igf2r gene, Imprinting, Labelling, Locus, Methylated, Methylation, Methylation status, Mutation, OGS, overgrowth syndromes, Overgrowth, Overgrowth syndromes, Partial demethylation, Phenotype, Receptor, SGBS, Simpson-Golabi-Behmel syndrome, Sgbs, Sigf2r, Sigf2r levels, Skin fibroblasts, Soluble form, Syndrome, Weiss, Western immunoblotting, mannose 6 phosphate/insulin-like growth factor 2 receptor, overgrowth syndrome, parental imprinting.
- Teeft :
- Abnormality, Affinity labelling, Allele, Antisense, Assay, Barlow, Beckwithwiedemann syndrome, Bisulphite, Bisulphite restriction analysis, Blood cells, Clin, Clin endocrinol metab, Control subject, Control subjects, Demethylation, Different tissues, Dmr1, Dmr2, Dmr2 methylation, Endocrinol, Epigenetic, Epigenetic modifications, Fetal, Fetal overgrowth, Genet, Gicquel, Gpc3, Growth factor, Igf2, Igf2 affinity labelling, Igf2 binding, Igf2 binding assay, Igf2r, Igf2r gene, Imprinting, Labelling, Locus, Methylated, Methylation, Methylation status, Mutation, Overgrowth, Overgrowth syndromes, Partial demethylation, Phenotype, Receptor, Sgbs, Sigf2r, Sigf2r levels, Skin fibroblasts, Soluble form, Syndrome, Weiss, Western immunoblotting.
Url:
DOI: 10.1136/jmg.2003.010488
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