1 to 10 of 11 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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• 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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• Association of melanin-concentrating hormone receptor 1 5' polymorphism with early-onset extreme obesity.

  Murine models have been highly effective in identifying the monogenic forms of human obesity discovered to date. Melanin-concentrating hormone recepto…

  Authors: Christopher G Bell, David Meyre, Chantal Samson, Cliona Boyle, Cécile Lecoeur, Maïte Tauber, Béatrice Jouret, Delphine Jaquet, Claire Levy-Marchal, Marie Aline Charles,…

  Source: Diabetes. 2005 Oct

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• Genome-wide linkage analysis for severe obesity in french caucasians finds significant susceptibility locus on chromosome 19q.

  To ascertain whether distinct chromosomal loci existed that were linked to severe obesity, as well as to utilize the increased heritability of this ex…

  Authors: Christopher G Bell, Michael Benzinou, Afshan Siddiq, Cécile Lecoeur, Christian Dina, Arnaud Lemainque, Karine Clément, Arnaud Basdevant, Bernard Guy-Grand, Charles A Mein,…

  Source: Diabetes. 2004 Jul

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• Molecular confirmation of pathological specimen integrity in Australasia.

  AIM: Investigations into 14 suspected pathology sample identification errors and mix-ups were performed, as a service for several public hospital and …

  Authors: Christopher G Bell, Daniel R Wood, Sarah J H Cheong, Edward Kwan, Mike Sinosich, Warick Delprado, Karl W Baumgart

  Source: Pathology. 2009

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• Advances in the identification and analysis of allele-specific expression.

  Allele-specific expression (ASE) is essential for normal development and many cellular processes but, if impaired, can result in disease. ASE is a fea…

  Authors: Christopher G Bell, Stephan Beck

  Source: Genome medicine. 2009

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• Macroscopic modeling of the surface tension of polymer-surfactant systems.

  Polymer-surfactant mixtures are increasingly being used in a wide range of applications. Weakly interacting systems, such as SDS/PEO and SDS/PVP, comp…

  Authors: Christopher G Bell, Christopher J W Breward, Peter D Howell, Jeffery Penfold, Robert K Thomas

  Source: Langmuir : the ACS journal of surfaces and colloids. 2007 May 22

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• First molecular confirmation of an Australian case of type III hereditary angioedema.

  Authors: Christopher G Bell, Edward Kwan, Richard C Nolan, Karl W Baumgart

  Source: Pathology. 2008 Jan

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• The genetics of human obesity.

  Obesity is an important cause of morbidity and mortality in developed countries, and is also becoming increasingly prevalent in the developing world. …

  Authors: Christopher G Bell, Andrew J Walley, Philippe Froguel

  Source: Nature reviews. Genetics. 2005 Mar

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• No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: a model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases.

  Candidate gene analyses are often inconclusive owing to genetic or phenotypic heterogeneity, low statistical power, selection of nonfunctional SNPs, a…

  Authors: Christopher G Bell, David Meyre, Enrico Petretto, Claire Levy-Marchal, Serge Hercberg, Marie Aline Charles, Cliona Boyle, Jacques Weill, Maïte Tauber, Charles A Mein,…

  Source: European journal of human genetics : EJHG. 2007 Mar

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