Isabelle Maystadt

Summary

Country: Belgium

Publications

  1. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
  2. pmc The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset
    Isabelle Maystadt
    Centre de Génétique Humaine et Unité de Génétique Médicale, Universite Catholique de Louvain, Brussels, Belgium
    Am J Hum Genet 81:67-76. 2007
  3. doi request reprint Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome
    Stephanie Moortgat
    Centre de Genetique Humaine, Institut de Pathologie et de Génétique, Charleroi Gosselies, Belgium
    Eur J Med Genet 54:177-80. 2011
  4. ncbi request reprint Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families
    Louis Viollet
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U393 Hôpital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Eur J Hum Genet 12:483-8. 2004

Collaborators

  • Louis Viollet
  • Bernard Grisart
  • Stephanie Moortgat
  • Anne Gregor
  • Denise Horn
  • Benoit Parmentier
  • Anita Rauch
  • Christiane Zweier
  • Emilia K Bijlsma
  • Jean Luc Hennecker
  • Beate Albrecht
  • Hartmut Engels
  • Ingrid Bader
  • Jurgen Kohlhase
  • Christine Verellen-Dumoulin
  • Juliane Hoyer
  • Arif B Ekici
  • Reinhard Ullmann
  • Eva Prott
  • Jakub Klapecki
  • Eva Wohlleber
  • Karl Hackmann
  • Geoffrey Woods
  • Anne Destree
  • Andre Reis
  • Sandra Nagl
  • Sigrid Tinschert

Detail Information

Publications4

  1. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
    ..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
  2. pmc The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset
    Isabelle Maystadt
    Centre de Génétique Humaine et Unité de Génétique Médicale, Universite Catholique de Louvain, Brussels, Belgium
    Am J Hum Genet 81:67-76. 2007
    ..Both loss of PLEKHG5 function and aggregate formation may contribute to neurotoxicity in this novel form of LMND...
  3. doi request reprint Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome
    Stephanie Moortgat
    Centre de Genetique Humaine, Institut de Pathologie et de Génétique, Charleroi Gosselies, Belgium
    Eur J Med Genet 54:177-80. 2011
    ..To our knowledge, this is the smallest interstitial deletion reported in the 3q25 region. The phenotype of our patient is compared with the 10 previously reported cases implicating the 3q25 region...
  4. ncbi request reprint Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families
    Louis Viollet
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, INSERM U393 Hôpital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Eur J Hum Genet 12:483-8. 2004
    ..Refinement of the Chronic DSMA locus will hopefully allow to test candidate genes and lead to identification of the disease-causing mutations...