Chromosome 21 and Down syndrome: from genomics to pathophysiology
The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. Comparative genomics is beginning to identify the functional components of the chromosome and that in turn will set the stage for the functional characterization of the sequences. Animal models combined with ge...
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| Veröffentlicht in: | Nature reviews. Genetics 2004-10, Vol.5 (10), p.725-738 |
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| container_title | Nature reviews. Genetics |
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| creator | Antonarakis, Stylianos E Lyle, Robert Dermitzakis, Emmanouil T Reymond, Alexandre Deutsch, Samuel |
| description | The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. Comparative genomics is beginning to identify the functional components of the chromosome and that in turn will set the stage for the functional characterization of the sequences. Animal models combined with genome-wide analytical methods have proved indispensable for unravelling the mysteries of gene dosage imbalance. |
| doi_str_mv | 10.1038/nrg1448 |
| format | Article |
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Genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Antonarakis, Stylianos E</au><au>Lyle, Robert</au><au>Dermitzakis, Emmanouil T</au><au>Reymond, Alexandre</au><au>Deutsch, Samuel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Chromosome 21 and Down syndrome: from genomics to pathophysiology</atitle><jtitle>Nature reviews. Genetics</jtitle><addtitle>Nat Rev Genet</addtitle><date>2004-10-01</date><risdate>2004</risdate><volume>5</volume><issue>10</issue><spage>725</spage><epage>738</epage><pages>725-738</pages><issn>1471-0056</issn><eissn>1471-0064</eissn><abstract>The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. Comparative genomics is beginning to identify the functional components of the chromosome and that in turn will set the stage for the functional characterization of the sequences. 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| subjects | Animals Biological and medical sciences Chromosome aberrations Chromosome Mapping Chromosomes Chromosomes, Human, Pair 21 - genetics Disease Models, Animal Down syndrome Down Syndrome - genetics Down Syndrome - physiopathology Drug dosages Gene Expression Genetic Variation Genomes Genomics Genotype & phenotype Humans Hypotheses Medical genetics Medical sciences Mice Pathophysiology Phenotype Proteins Trisomy - genetics |
| title | Chromosome 21 and Down syndrome: from genomics to pathophysiology |
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