Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver—Russell syndrome and growth retardation : Copy-number variation
- Autor
- GRØNSKOV, Karen1 ; POOLE, Rebecca L2 3 ; DOLMER, Birgitte7 ; KAREN TEMPLE, I2 3 ; BOONEN, Susanne E1 8 ; MACKAY, Deborah J. G2 3 ; HAHNEMANN, Johanne M. D1 ; THOMSON, Jennifer4 ; TÜMER, Zeynep1 ; BRØNDUM-NIELSEN, Karen1 5 ; MURPHY, Rinki6 ; RAVN, Kirstine1 ; MELCHIOR, Linea1 ; DEDIC, Alma1
[1] Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
[2] Wessex Genetics Service, Southampton University Hospitals Trust, Southampton, Salisbury Hospital NHS Foundation Trust, Salisbury, United Kingdom
[3] Division of Human Genetics, University of Southampton, Southampton, United Kingdom
[4] Yorkshire Regional Clinical Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom
[5] Genetic Counseling Clinic, The Kennedy Center, Glostrup, Denmark
[6] Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand
[7] Department of Pediatrics, Næstved Hospital, Næstved, Denmark
[8] The Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark - Fuente
Journal of medical genetics. 2011, Vol 48, Num 5, pp 308-311, 4 p ; ref : 17 ref
- Editor
- BMJ Publishing Group, London
- País de la publicación
- United Kingdom
- Tipo de documento
- Article
- Idioma
- English
- Palabra clave (fr)
- Délétion Déterminisme génétique Homme Nanisme intrautérin Russel
- Palabra clave (in)
- Deletion Genetic determinism Human Russel syndrome
- Palabra clave (es)
- Deleción Determinismo genético Hombre Enanismo intrauterino Russel
- Clasificación
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Disciplina
- Medical genetics
- Procedencia
- Inist-CNRS
- Base de datos
- PASCAL
- Identificador INIST
- 24147844
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
10.1136/jmg.2010.086504 
https://dx.doi.org/10.1136/jmg.2010.086504
