W L Greer

Summary

Affiliation: Dalhousie University
Country: Canada

Publications

  1. pmc Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain
    W L Greer
    Department of Pathology, Division of Molecular Pathology and Molecular Genetics, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Hum Genet 65:1252-60. 1999
  2. pmc The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1
    W L Greer
    Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia
    Am J Hum Genet 63:52-4. 1998
  3. ncbi Linkage disequilibrium mapping of the Nova Scotia variant of Niemann-Pick disease
    W L Greer
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
    Clin Genet 55:248-55. 1999
  4. pmc Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C
    W L Greer
    Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Hum Genet 61:139-42. 1997
  5. ncbi FISH mapping and inter-Alu fingerprinting define the YAC contig map around the centromeric region of human chromosome 18
    W L Greer
    Department of Pathology, Queen Elizabeth II Health Sciences Centre, Halifax, NS, Canada
    Genome 41:468-70. 1998
  6. doi Familial essential thrombocythemia with spontaneous megakaryocyte colony formation and acquired JAK2 mutations
    J R Higgs
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
    Leukemia 22:1551-6. 2008
  7. doi Qualitative assessment of the emotional and behavioural responses of haemophilia A carriers to negative experiences in their medical care
    N K Renault
    Department of Pathology, QEII Health Sciences Centre and Dalhousie University, Halifax, NS, Canada
    Haemophilia 17:237-45. 2011

Collaborators

  • N K Renault
  • J R Higgs
  • R E Howell
  • K S Robinson
  • V W Ing
  • J N Berman
  • I Sadek
  • P E Neumann

Detail Information

Publications7

  1. pmc Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain
    W L Greer
    Department of Pathology, Division of Molecular Pathology and Molecular Genetics, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Hum Genet 65:1252-60. 1999
    ..That 7 of a total of 13 NPC1 missense mutations are concentrated in this single Npc1-specific domain suggests that integrity of this region is particularly critical for normal functioning of the protein...
  2. pmc The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1
    W L Greer
    Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia
    Am J Hum Genet 63:52-4. 1998
    ..We have identified a point mutation within this gene (G3097-->T; Gly992-->Trp) that shows complete linkage disequilibrium with NPD, confirming that NPD is an allelic variant of NPC1...
  3. ncbi Linkage disequilibrium mapping of the Nova Scotia variant of Niemann-Pick disease
    W L Greer
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
    Clin Genet 55:248-55. 1999
    ..Our work supports the finding that NPD is an allelic variant of NPC1, and illustrates the power of large kindreds, which are common in Atlantic Canada and other relatively isolated areas, for gene mapping and identification...
  4. pmc Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C
    W L Greer
    Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Hum Genet 61:139-42. 1997
    ..Carstea et al. have reported that the NPC gene maps to this same site; therefore we suggest that NPC and NPD likely result from mutations in the same gene...
  5. ncbi FISH mapping and inter-Alu fingerprinting define the YAC contig map around the centromeric region of human chromosome 18
    W L Greer
    Department of Pathology, Queen Elizabeth II Health Sciences Centre, Halifax, NS, Canada
    Genome 41:468-70. 1998
    ..0) maps to proximal 18q. Furthermore, inter-Alu fingerprinting shows a clear overlap between WC18.0 and WC18.1, thereby establishing a complete contig between D18S44 and markers from WC18.1...
  6. doi Familial essential thrombocythemia with spontaneous megakaryocyte colony formation and acquired JAK2 mutations
    J R Higgs
    Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
    Leukemia 22:1551-6. 2008
    ..These patients also had elevated TPO levels. Further study of familial myeloproliferative diseases will help elucidate the initiating genetic events underlying ET...
  7. doi Qualitative assessment of the emotional and behavioural responses of haemophilia A carriers to negative experiences in their medical care
    N K Renault
    Department of Pathology, QEII Health Sciences Centre and Dalhousie University, Halifax, NS, Canada
    Haemophilia 17:237-45. 2011
    ..Further research is needed to determine whether the themes identified in this study accurately reflect the experiences of carriers in general...