Search Results - "ROBINSON, Thelma E"
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Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development
Published in Molecular and Cellular Biology (01-04-2009)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Alpha-cardiac actin mutations produce atrial septal defects
Published in Human molecular genetics (15-01-2008)“…Atrial septal defect (ASD) is one of the most frequent congenital heart defects (CHDs) with a variable phenotypic effect depending on the size of the septal…”
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3
Mutation in myosin heavy chain 6 causes atrial septal defect
Published in Nature genetics (01-04-2005)“…Atrial septal defect is one of the most common forms of congenital heart malformation. We identified a new locus linked with atrial septal defect on chromosome…”
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High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines
Published in Human molecular genetics (15-03-2014)“…Myotonic dystrophy (DM) is a multi-system neuromuscular disorder for which there is no treatment. We have developed a medium throughput phenotypic assay, based…”
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Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts
Published in Human genetics (01-11-2006)“…Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which…”
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6
Mechanisms regulating the copy numbers of six LTR retrotransposons in the genome of Drosophila melanogaster
Published in Chromosoma (01-02-2002)“…There has been debate over the mechanisms that control the copy number of transposable elements in the genome of Drosophila melanogaster. Target sites in D…”
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An investigation of the cause of low variability on the fourth chromosome of Drosophila melanogaster
Published in Molecular biology and evolution (01-12-2001)“…The fourth chromosome of Drosophila melanogaster lacks meiotic recombination. There is also a lack of nucleotide variation on the chromosome. This lack of…”
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Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome
Published in Human molecular genetics (01-09-2001)“…Holt-Oram syndrome is caused by mutations in TBX5, a member of the T-box gene family. In order to identify DNA sequences to which the TBX5 protein binds, we…”
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What is the impact of transposable elements on host genome variability?
Published in Proceedings of the Royal Society. B, Biological sciences (22-08-1999)“…sequences in…”
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Methods in coccidiosis research: separation of oocysts from faeces
Published in Parasitology (01-12-1976)“…Factors which may be important in the large-scale extraction of coccidial oocysts from faeces ha.ve been investigated with Eimeria tenella. Age of bird,…”
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