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Chromosome 21 and down syndrome: from genomics to pathophysiology

Deutsch, Samuel
Published in Nature reviews. Genetics. 2004, vol. 5, no. 10, p. 725-738
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. Animal models combined with genome-wide analytical methods have proved indispensable for unravelling the mysteries of gene dosage imbalance.
Keywords AnimalsChromosome MappingChromosomes, Human, Pair 21/ geneticsDisease Models, AnimalDown Syndrome/genetics/ physiopathologyGene ExpressionGenetic VariationHumansMicePhenotypeTrisomy/ genetics
PMID: 15510164
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Other version: http://www.nature.com/nrg/journal/v5/n10/pdf/nrg1448.pdf
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ANTONARAKIS, Stylianos et al. Chromosome 21 and down syndrome: from genomics to pathophysiology. In: Nature reviews. Genetics, 2004, vol. 5, n° 10, p. 725-738. doi: 10.1038/nrg1448 https://archive-ouverte.unige.ch/unige:8611

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Deposited on : 2010-07-12

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