W T Gibson

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. pmc Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
    Jm Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    BMC Genomics 10:526. 2009
  2. ncbi request reprint Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy
    William T Gibson
    University Department of Clinical Biochemistry, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Cambridge, United Kingdom CB2 2XY
    J Clin Endocrinol Metab 89:4821-6. 2004
  3. ncbi request reprint The beat goes on: ciliary proteins are defective in Meckel syndrome
    W T Gibson
    Center for Molecular Medicine and Therapeutics, 980 West 28th Avenue, Vancouver, BC, Canada, V5Z 4H4
    Clin Genet 69:400-1. 2006
  4. ncbi request reprint Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
    William T Gibson
    Department of Medical Genetics, Child and Family Research Institute, UBC, Vancouver, BC, Canada
    Am J Med Genet A 146:225-32. 2008
  5. doi request reprint Ldlr-/- mice display decreased susceptibility to Western-type diet-induced obesity due to increased thermogenesis
    Ying Fai Ngai
    Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
    Endocrinology 151:5226-36. 2010
  6. doi request reprint The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone
    Melissa B Glier
    Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Canada
    Peptides 31:123-9. 2010
  7. doi request reprint Key concepts in human genetics: understanding the complex phenotype
    William T Gibson
    Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, B C, Canada
    Med Sport Sci 54:1-10. 2009
  8. doi request reprint Clinical study of two brothers with a novel 33 bp duplication in the ARX gene
    Michelle K Demos
    Department of Pediatric Neurology, British Columbia s Children s Hospital, University of British Columbia, Vancouver, Canada
    Am J Med Genet A 149:1482-6. 2009
  9. doi request reprint Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria
    Anna M Lehman
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 146:1299-306. 2008
  10. ncbi request reprint Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice
    Marcia L E MacDonald
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    J Lipid Res 49:217-29. 2008

Collaborators

Detail Information

Publications15

  1. pmc Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
    Jm Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    BMC Genomics 10:526. 2009
    ..However, there is no agreement regarding the kind of array, the distribution of probes across the genome, or the resolution that is most appropriate for clinical use...
  2. ncbi request reprint Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy
    William T Gibson
    University Department of Clinical Biochemistry, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Cambridge, United Kingdom CB2 2XY
    J Clin Endocrinol Metab 89:4821-6. 2004
    ....
  3. ncbi request reprint The beat goes on: ciliary proteins are defective in Meckel syndrome
    W T Gibson
    Center for Molecular Medicine and Therapeutics, 980 West 28th Avenue, Vancouver, BC, Canada, V5Z 4H4
    Clin Genet 69:400-1. 2006
  4. ncbi request reprint Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
    William T Gibson
    Department of Medical Genetics, Child and Family Research Institute, UBC, Vancouver, BC, Canada
    Am J Med Genet A 146:225-32. 2008
    ..We describe detailed molecular cytogenetic and clinical findings relating to a subject with ATR-16...
  5. doi request reprint Ldlr-/- mice display decreased susceptibility to Western-type diet-induced obesity due to increased thermogenesis
    Ying Fai Ngai
    Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
    Endocrinology 151:5226-36. 2010
    ..In addition to its known role in lipid transport, these results demonstrate the importance of the Ldlr in energy homeostasis and suggest a direct physiological link between altered lipid transport and energy balance...
  6. doi request reprint The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone
    Melissa B Glier
    Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Canada
    Peptides 31:123-9. 2010
    ..We conclude that the increased food intake and increased energy expenditure of Scd1-/- mice are independent of the neuropeptide melanin-concentrating hormone...
  7. doi request reprint Key concepts in human genetics: understanding the complex phenotype
    William T Gibson
    Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, B C, Canada
    Med Sport Sci 54:1-10. 2009
    ..This introductory chapter will aim to equip the reader with the necessary vocabulary to understand and interpret genetic studies targeted to sport fitness and sport-related injury...
  8. doi request reprint Clinical study of two brothers with a novel 33 bp duplication in the ARX gene
    Michelle K Demos
    Department of Pediatric Neurology, British Columbia s Children s Hospital, University of British Columbia, Vancouver, Canada
    Am J Med Genet A 149:1482-6. 2009
    ..The location of the novel 33 bp duplication in the same region as the common 24 bp duplication supports this region as the ARX variation "hot spot."..
  9. doi request reprint Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria
    Anna M Lehman
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 146:1299-306. 2008
    ..Other highly supportive features include neuroepithelial tumors (found in 17%), hypertrichosis, and brain abnormalities. Severe developmental delay and poor survival are constant features in reported patients...
  10. ncbi request reprint Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice
    Marcia L E MacDonald
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    J Lipid Res 49:217-29. 2008
    ..Our results demonstrate that constitutive reduction of SCD activity improves the metabolic phenotype of LDLR-deficient mice on a Western diet...
  11. pmc Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
    Farah Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, Canada
    J Med Genet 44:556-61. 2007
    ..All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow of the upper lip, full lower lip and similar auricular anomalies...
  12. pmc Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
    J M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Hum Genet 79:500-13. 2006
    ..This technology can detect at least twice as many potentially pathogenic de novo copy-number variants as conventional cytogenetic analysis can in people with mental retardation...
  13. ncbi request reprint Body weight is modulated by levels of full-length huntingtin
    Jeremy M Van Raamsdonk
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada V6T 1Z3
    Hum Mol Genet 15:1513-23. 2006
    ..Overall, we demonstrate that increased levels of both wild-type and mutant full-length htt are associated with increased body weight...
  14. ncbi request reprint Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity
    William T Gibson
    Department of Clinical Biochemistry and Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
    Can J Physiol Pharmacol 82:426-9. 2004
    ..9%, respectively. In conclusion, mutations in 5HT2c are unlikely to be a common cause of severe early-onset human obesity. The identification of several novel polymorphisms at this locus may aid future genetic epidemiological studies...
  15. ncbi request reprint Melanin-concentrating hormone receptor mutations and human obesity: functional analysis
    William T Gibson
    University Department of Clinical Biochemistry, Cambridge Institute of Medical Research, Cambridge United Kingdom
    Obes Res 12:743-9. 2004
    ..Clarification of the relationship of these variants to obesity must await study in other populations and/or in genetically modified mice...