Mireille Cossee

Summary

Country: France

Publications

  1. ncbi Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect
    Mireille Cossee
    Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg et Faculté de Médecine, 11 rue Humann, 67085 Strasbourg Cedex, France
    Eur J Hum Genet 14:418-25. 2006
  2. ncbi Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort
    Haifa Hichri
    Laboratoire de Diagnostic Génétique, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Eur J Hum Genet 13:607-16. 2005
  3. doi Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H
    Mireille Cossee
    Laboratoire de Diagnostic Génétique, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Neuromuscul Disord 19:255-60. 2009
  4. ncbi BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families
    Corinne Stoetzel
    EA Laboratoire de Génétique Médicale, Faculte de Medecine, Universite Louis Pasteur, 11 rue Humann, 67000 Strasbourg, France
    J Hum Genet 51:81-4. 2006

Collaborators

Detail Information

Publications4

  1. ncbi Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect
    Mireille Cossee
    Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg et Faculté de Médecine, 11 rue Humann, 67085 Strasbourg Cedex, France
    Eur J Hum Genet 14:418-25. 2006
    ..This touches upon a common dilemma in XLMR, that is, how to distinguish between mutations and variants that may be non-pathogenic or represent risk factors for cognitive impairment...
  2. ncbi Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort
    Haifa Hichri
    Laboratoire de Diagnostic Génétique, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Eur J Hum Genet 13:607-16. 2005
    ..This study underlines the genetic heterogeneity of the BBS and the involvement of possibly unidentified genes...
  3. doi Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H
    Mireille Cossee
    Laboratoire de Diagnostic Génétique, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Neuromuscul Disord 19:255-60. 2009
    ..1753_1766dup14 (p.Ile590Leu fsX38). Together with two recently reported mutations, this novel mutation confirms that integrity of the C-terminal domain of TRIM32 is necessary for muscle maintenance...
  4. ncbi BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families
    Corinne Stoetzel
    EA Laboratoire de Génétique Médicale, Faculte de Medecine, Universite Louis Pasteur, 11 rue Humann, 67000 Strasbourg, France
    J Hum Genet 51:81-4. 2006
    ..Two of the three families have homozygous mutations and one has a heterozygous mutation. Mutations in BBS8 probably account for only a minority of BBS families (2%), underlining the difficulty of genotyping heterogeneous conditions...