Mireille Cossee

Summary

Country: France

Publications

  1. 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
  2. doi ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
    Mireille Cossee
    Hopitaux Universitaires de Strasbourg, France
    Am J Med Genet A 155:98-105. 2011
  3. 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
  4. 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

Collaborators

Detail Information

Publications4

  1. 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...
  2. doi ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
    Mireille Cossee
    Hopitaux Universitaires de Strasbourg, France
    Am J Med Genet A 155:98-105. 2011
    ..Our study illustrates that ARX polyA expansions are primarily associated with syndromic MR and shows a higher yield (18% in our cohort) when these mutations are screened in familial cases of MR with epilepsy and/or dystonia...
  3. 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...
  4. 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...