1 to 10 of 13 literature results

• Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

  We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disor…

  Authors: Tony Roscioli, Simon T Cliffe, Donald B Bloch, Christopher G Bell, Glenda Mullan, Peter J Taylor, Maria Sarris, Joanne Wang, Jennifer A Donald, Edwin P Kirk,…

  Source: Nature genetics. 2006 Jun

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• Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.

  PURPOSE: A recurrent 17 bp duplication (c.657ins17bp) of a segment of the paired-like homeodomain transcription factor 3 (PITX3) gene on human chromos…

  Authors: Kim M Summers, Stephen J Withers, Glen A Gole, Sara Piras, Peter J Taylor

  Source: Molecular vision. 2008

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• Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

  BACKGROUND: Recent methodological advances have improved the detection rate for dystrophin mutations, but there are no published studies that have mea…

  Authors: Peter J Taylor, Sarah Maroulis, Glenda L Mullan, Robyn L Pedersen, Aurora Baumli, George Elakis, Sara Piras, Corrina Walsh, Benito Prósper-Gutiérrez, Fernando De La Puente-Alonso,…

  Source: Journal of medical genetics. 2007 Jun

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• Evolutionary systematics in African gerbilline rodents of the genus Gerbilliscus: inference from mitochondrial genes.

  Gerbilliscus has recently been proposed as an endemic African rodent genus distinct from the Asian Tatera. A molecular phylogeny of the genus, includi…

  Authors: Paolo Colangelo, Laurent Granjon, Peter J Taylor, Marco Corti

  Source: Molecular phylogenetics and evolution. 2007 Mar

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• Lagos bat virus, South Africa.

  Three more isolates of Lagos bat virus were recently recovered from fruit bats in South Africa after an apparent absence of this virus for 13 years. T…

  Authors: Wanda Markotter, Jenny Randles, Charles E Rupprecht, Claude T Sabeta, Peter J Taylor, Alex I Wandeler, Louis H Nel

  Source: Emerging infectious diseases. 2006 Mar

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• Nothing reliable about genes or environment: new perspectives on analysis of similarity among relatives in light of the possibility of underlying heterogeneity.

  Despite the long history of scientific, philosophical, and political debate around heritability studies, certain fundamental conceptual issues have no…

  Authors: Peter J Taylor

  Source: Studies in history and philosophy of biological and biomedical sciences. 2009 Sep

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• The under-recognized implications of heterogeneity: opportunities for fresh views on scientific, philosophical, and social debates about heritability.

  Despite a long history of debates about the heritability of human traits by researchers and other critical commentators, the possible heterogeneity of…

  Authors: Peter J Taylor

  Source: History and philosophy of the life sciences. 2008

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• The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110.

  OBJECTIVES: We present the first prenatal diagnosis of familial hepatic veno-occlusive disease with immunodeficiency (VODI). Homozygous mutations in t…

  Authors: Simon T Cliffe, Melanie Wong, Peter J Taylor, Ezia Ruga, Bridget Wilcken, Robert Lindeman, Michael F Buckley, Tony Roscioli

  Source: Prenatal diagnosis. 2007 Jul

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• Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.

  BACKGROUND: A significant component of the variation in cognitive disability that is observed in Duchenne muscular dystrophy (DMD) is known to be unde…

  Authors: Peter J Taylor, Grant A Betts, Sarah Maroulis, Christian Gilissen, Robyn L Pedersen, David R Mowat, Heather M Johnston, Michael F Buckley

  Source: PloS one. 2010

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• The effects of parallax on geometric morphometric data.

  This study questions the use of parallactic images in the field of geometric morphometrics. Landmark data from both standard and distorted images of g…

  Authors: Sarah K Mullin, Peter J Taylor

  Source: Computers in biology and medicine. 2002 Nov

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