Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway
- Author
- BROWN, K. W1 ; VILLAR, A. J2 ; BICKMORE, W3 ; CLAYTON-SMITH, J4 ; CATCHPOOLE, D5 ; MAHER, E. R5 ; REIK, W2
[1] Department of Pathology and Microbiology, School of Medical Sciences, University Walk, Bristol BS8 1TD, United Kingdom
[2] Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge CB2 4AT, United Kingdom
[3] Cell Genetics Section, MRC Human Genetics Unit, Edinburgh, United Kingdom
[4] Regional Genetics Service, St Mary's Hospital, Manchester M13 0JH, United Kingdom
[5] Department of Clinical Genetics, Addenbrooke's NHS Trust and Cambridge University, Department of Pathology, Tennis Court Road, Cambridge, United Kingdom - Source
Human molecular genetics (Print). 1996, Vol 5, Num 12, pp 2027-2032 ; ref : 43 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Beckwith Wiedemann syndrome Empreinte génomique Expression génique Facteur croissance IGF2 Génétique Homme Mutation Méthylation Régulation Translocation chromosomique Aberration chromosomique Chromosome anormal Facteur croissance Foetus pathologie Gigantisme Macrosomie Maladie héréditaire Malformation Polypeptide
- Keyword (en)
- Beckwith Wiedemann syndrome Genomic imprinting Gene expression Insulin like growth factor 2 Genetics Human Mutation Methylation Regulation(control) Chromosome translocation Chromosomal aberration Abnormal chromosome Growth factor Fetal diseases Gigantism Macrosomia Genetic disease Malformation Polypeptide
- Keyword (es)
- Beckwith Wiedemann síndrome Huella genómica Expresión genética Factor crecimiento IGF2 Genética Hombre Mutación Metilación Regulación Translocación cromosómica Aberración cromosómica Cromosoma anormal Factor crecimiento Feto patología Gigantismo Macrosomía Enfermedad hereditaria Malformación Polipéptido
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20F Pregnancy. Fetus. Placenta / 002B20F02 Diseases of mother, fetus and pregnancy
- Discipline
- Gynecology. Andrology. Obstetrics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2500796
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1093/hmg/5.12.2027 
https://dx.doi.org/10.1093/hmg/5.12.2027
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