M Pigg

Summary

Affiliation: University Hospital
Country: Sweden

Publications

  1. ncbi Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway
    M Pigg
    Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
    Eur J Hum Genet 6:589-96. 1998
  2. ncbi Linkage analysis in properdin deficiency families: refined location in proximal Xp
    C Wadelius
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Clin Genet 42:8-12. 1992
  3. ncbi Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatellite
    D Agardi
    Pharmacia Biotech AB, Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Exp Clin Immunogenet 12:111-4. 1995
  4. ncbi The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association
    M Pigg
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Nat Genet 8:361-4. 1994
  5. ncbi Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction
    N Dahl
    Department of Clinical Genetics, Uppsala University Children s Hospital, Sweden
    Hum Mol Genet 6:1147-52. 1997
  6. pmc Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13
    J Klar
    J Med Genet 41:208-12. 2004

Collaborators

  • E Ristoff
  • A Sillen
  • N Dahl
  • Runa Njalsson
  • J Klar
  • A Vahlquist
  • M Larsson
  • D Tentler
  • B Carlsson
  • T Gedde-Dahl
  • D Agardi
  • A G Sjoholm
  • C C Tijssen
  • P J Spath
  • E J Kuijper
  • L Tranebjaerg
  • P J Ulfendahl
  • L Truedsson
  • K H Gustavson
  • C Wadelius
  • U B Schaad
  • P Goonewardena
  • A Jansz
  • M Sundvall

Detail Information

Publications6

  1. ncbi Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway
    M Pigg
    Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
    Eur J Hum Genet 6:589-96. 1998
    ..The mutation was previously observed in one family with a resulting cDNA that included the entire intron 5. These results suggest that the mutation can result in variant transcripts in different individuals...
  2. ncbi Linkage analysis in properdin deficiency families: refined location in proximal Xp
    C Wadelius
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Clin Genet 42:8-12. 1992
    ..There was no indication of genetic heterogeneity among the six families analyzed. Thus it is now possible to perform accurate DNA-based determination of the inheritance of the mutation in affected families...
  3. ncbi Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatellite
    D Agardi
    Pharmacia Biotech AB, Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Exp Clin Immunogenet 12:111-4. 1995
    ..g. for linkage analysis. The system was tested in the mapping of properdin deficiency, an X-linked condition with increased risk for a severe infection in the affected...
  4. ncbi The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association
    M Pigg
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Nat Genet 8:361-4. 1994
    ..These markers map to the same location in reference pedigrees. Strong allelic association (chi-square 60.28, p < 0.0003) to D17S805 suggests that the mutation is located close to this marker...
  5. ncbi Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction
    N Dahl
    Department of Clinical Genetics, Uppsala University Children s Hospital, Sweden
    Hum Mol Genet 6:1147-52. 1997
    ..Our results suggest that complete loss of function of both GS alleles is probably lethal. It is postulated that missense mutations will account for the phenotype in the majority of patients with severe GS deficiency...
  6. pmc Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13
    J Klar
    J Med Genet 41:208-12. 2004