High proportion of large genomic deletions and a genotype-phenotype update in 80 unrelated families with juvenile polyposis syndrome
- Author
- ARETZ, S1 ; STIENEN, D1 ; SIEBERT, R8 ; VOGT, S1 ; SPRANGER, S9 ; HOLINSKI-FEDER, E10 ; SUNDE, L11 ; PROPPING, P1 ; FRIEDL, W1 ; UHLHAAS, S1 ; STOLTE, M2 ; ENTIUS, M. M3 ; LOFF, S4 ; BACK, W5 ; KAUFMANN, A1 ; KELLER, K.-M6 ; BLAAS, S. H7
[1] Institute of Human Genetics, University of Bonn, Germany
[2] Institute of Pathology, Klinikum Bayreuth GmbH, Bayreuth, Germany
[3] MRC-Holland, Amsterdam, Netherlands
[4] Department of Children Surgery, University Hospital Giessen and Marburg, Germany
[5] Institute of Pathology, University Hospital Mannheim, Germany
[6] Deutsche Klinik für Diagnostik (DKD), Wiesbaden, Germany
[7] Department of Internal Medicine I, University of Regensburg, Germany
[8] Institute of Human Genetics, University of Kiel, Germany
[9] Praxis für Humangenetik, Bremen, Germany
[10] Medizinisch-Genetisches Zentrum, Munich, Germany
[11] Department of Clinical Genetics, Aarhus University Hospital, Denmark - Source
Journal of medical genetics. 2007, Vol 44, Num 11, pp 702-709, 8 p ; ref : 24 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Délétion Etude familiale Génomique Génotype Génétique Homme Milieu familial Phénotype Polypose juvénile Syndrome Typage Aberration chromosomique Appareil digestif pathologie Intestin pathologie
- Keyword (en)
- Deletion Family study Genomics Genotype Genetics Human Family environment Phenotype Multiple juvenile polyposis Syndrome Typing Chromosomal aberration Digestive diseases Intestinal disease
- Keyword (es)
- Deleción Estudio familiar Genómica Genotipo Genética Hombre Medio familiar Fenotipo Poliposis juvenil Síndrome Tipificación Aberración cromosómica Aparato digestivo patología Intestino patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B13 Gastroenterology. Liver. Pancreas. Abdomen / 002B13B Stomach. Duodenum. Small intestine. Colon. Rectum. Anus / 002B13B01 Tumors
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Gastroenterology. Liver. Pancreas. Abdomen Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 19203294
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.2007.052506 
https://dx.doi.org/10.1136/jmg.2007.052506
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