Regular ArticleBAC and PAC Contigs Covering 3.5 Mb of the Down Syndrome Congenital Heart Disease Region between D21S55 and MX1 on Chromosome 21☆,☆☆
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Deficiency of the vestibular spine in atrioventricular septal defects in human fetuses with down syndrome
2003, American Journal of CardiologyCitation Excerpt :Recent molecular studies have narrowed the Down syndrome heart critical region, and candidate genes have been suggested without the direct evidence by transgenic mouse models. These genes encoding matrix proteins such as collagen VI, XVIII, and especially Down syndrome cell adhesion molecule are present in the critical region and are expressed in the heart during cardiac development.14–17 Although these molecular data in human trisomy 21 are of major importance, supportive morphogenetic data on AVSD development in humans are lacking.
High throughput methods for gene identification, cloning and functional genomics using the GeneTAC™ G<sup>3</sup> robotics workstation
2002, JALA - Journal of the Association for Laboratory AutomationCitation Excerpt :This is followed by isolating a set of corresponding BACs (Baceterial Artificial Chromosome) then mapping the gene of interest to a minimal set of BACs using techniques such as fingerprinting.6 The BACs that are thought to contain the gene of interest are prepared and sequenced using M13 shotgun sequencing strategy.9,10,16,24 Gene structure is then identified using cumbersome techniques such as solution hybrid capture27 and exon trapping.18
Down syndrome congenital heart disease: A narrowed region and a candidate gene
2001, Genetics in MedicineAnalysis of a clonal selection event during transposon-mediated nested-deletion formation in rare BAC and PAC clones
2000, Analytical Biochemistry
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Sequence data from this article have been deposited with the GenBank Data Library under Accession Nos. G29029–G29052.
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G. B. MarinoS. M. Puschel, Eds.
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