A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma
Identifieur interne : 000467 ( Main/Exploration ); précédent : 000466; suivant : 000468A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma
Auteurs : T. Hienonen [Finlande] ; H. Sammalkorpi [Finlande] ; P. Isohanni [Finlande] ; R. Versteeg [Pays-Bas] ; R. Karikoski [Finlande] ; L A Aaltonen [Finlande]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2005-01.
English descriptors
- KwdEn :
- Teeft :
- Additional analyses, Adrenal medulla, Allelic imbalance, Biomedicum helsinki, Bone marrow, Candidate genes, Cell adhesion, Chromosome, Copy number changes, Deletion, Deletion size, Extensive treatment, External gene, Finland, Finnish girl, Gene, Gene description protein family description, Gene expression, Genet, Genetic analyses, Genetic changes, Germline deletion, Helsinki, Human neuroblastoma, Linkage studies, Marker, Medical genetics, Meis1, Microsatellite, Microsatellite analysis, Microsatellite marker analysis, Microsatellite markers, Mutation, Mycn, Negative results, Neuroblastoma, Neuroblastoma cell lines, Neuroblastoma development, Neuroblastoma differentiation pathways, Neuroblastoma pathways, Neuroblastoma patient, Normal tissue, Online mutation report, Pathway, Possible association, Protein degradation, Sage, Sage data, Serial analysis, Smithmagenis syndrome, Sporadic neuroblastomas, Stage neuroblastoma, Syndrome, Trka, Tumour, Unknown functions, Zinc finger, Zinc finger protein.
Url:
- https://api.istex.fr/document/DDA2F879EC38C60FE060BEEF97B9488EA3B528AC/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735919
DOI: 10.1136/jmg.2004.022814
Affiliations:
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Le document en format XML
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<term>del 17p11.2</term>
<term>hereditary</term>
<term>neuroblastoma</term>
<term>serial analysis of gene expression</term>
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<keywords scheme="Teeft" xml:lang="en"><term>Additional analyses</term>
<term>Adrenal medulla</term>
<term>Allelic imbalance</term>
<term>Biomedicum helsinki</term>
<term>Bone marrow</term>
<term>Candidate genes</term>
<term>Cell adhesion</term>
<term>Chromosome</term>
<term>Copy number changes</term>
<term>Deletion</term>
<term>Deletion size</term>
<term>Extensive treatment</term>
<term>External gene</term>
<term>Finland</term>
<term>Finnish girl</term>
<term>Gene</term>
<term>Gene description protein family description</term>
<term>Gene expression</term>
<term>Genet</term>
<term>Genetic analyses</term>
<term>Genetic changes</term>
<term>Germline deletion</term>
<term>Helsinki</term>
<term>Human neuroblastoma</term>
<term>Linkage studies</term>
<term>Marker</term>
<term>Medical genetics</term>
<term>Meis1</term>
<term>Microsatellite</term>
<term>Microsatellite analysis</term>
<term>Microsatellite marker analysis</term>
<term>Microsatellite markers</term>
<term>Mutation</term>
<term>Mycn</term>
<term>Negative results</term>
<term>Neuroblastoma</term>
<term>Neuroblastoma cell lines</term>
<term>Neuroblastoma development</term>
<term>Neuroblastoma differentiation pathways</term>
<term>Neuroblastoma pathways</term>
<term>Neuroblastoma patient</term>
<term>Normal tissue</term>
<term>Online mutation report</term>
<term>Pathway</term>
<term>Possible association</term>
<term>Protein degradation</term>
<term>Sage</term>
<term>Sage data</term>
<term>Serial analysis</term>
<term>Smithmagenis syndrome</term>
<term>Sporadic neuroblastomas</term>
<term>Stage neuroblastoma</term>
<term>Syndrome</term>
<term>Trka</term>
<term>Tumour</term>
<term>Unknown functions</term>
<term>Zinc finger</term>
<term>Zinc finger protein</term>
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