P Edery

Summary

Affiliation: Hospices Civils de Lyon
Country: France

Publications

  1. ncbi request reprint [From morphological features to diagnostics of unexplained mental retardation: a new clinical classification?]
    P Edery
    Hospices Civils de Lyon, Unite de Genetique Medicale, Hopital Debrousse, 29, rue Soeur Bouvier, 69005 Lyon, France
    Arch Pediatr 11:562-3. 2004
  2. pmc New disease gene location and high genetic heterogeneity in idiopathic scoliosis
    Patrick Edery
    Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, France
    Eur J Hum Genet 19:865-9. 2011
  3. doi request reprint Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
    Patrick Edery
    Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, F 69677, France
    Science 332:240-3. 2011
  4. doi request reprint [New chromosomal syndromes]
    C Schluth-Bolard
    Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Centre de Biologie et de Pathologie Est, 59, boulevard Pinel, 69677 Bron, Cedex, France
    Pathol Biol (Paris) 56:380-7. 2008
  5. pmc Spectrum of NSD1 mutations in Sotos and Weaver syndromes
    M Rio
    Unité de Recherche sur les Handicaps Génétiques de l Enfant, INSERM U 393, et Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 40:436-40. 2003
  6. ncbi request reprint Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation
    G Lesca
    Clin Genet 67:367-8. 2005

Collaborators

Detail Information

Publications6

  1. ncbi request reprint [From morphological features to diagnostics of unexplained mental retardation: a new clinical classification?]
    P Edery
    Hospices Civils de Lyon, Unite de Genetique Medicale, Hopital Debrousse, 29, rue Soeur Bouvier, 69005 Lyon, France
    Arch Pediatr 11:562-3. 2004
  2. pmc New disease gene location and high genetic heterogeneity in idiopathic scoliosis
    Patrick Edery
    Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, France
    Eur J Hum Genet 19:865-9. 2011
    ..3, 17p11.2, 9q34, 17q25 and 18q is unlikely, confirming that there is a high genetic heterogeneity within the subgroup of dominant forms of IS...
  3. doi request reprint Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
    Patrick Edery
    Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, F 69677, France
    Science 332:240-3. 2011
    ..Our findings demonstrate a crucial role of the minor spliceosome component U4atac snRNA in early human development and postnatal survival...
  4. doi request reprint [New chromosomal syndromes]
    C Schluth-Bolard
    Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Centre de Biologie et de Pathologie Est, 59, boulevard Pinel, 69677 Bron, Cedex, France
    Pathol Biol (Paris) 56:380-7. 2008
    ..2, duplication of MECP2). A better knowledge of these new recurrent chromosomal syndromes will allow to improve care for patients, to develop targeted chromosomal diagnosis and to identify genes involved in neurocognitive functions...
  5. pmc Spectrum of NSD1 mutations in Sotos and Weaver syndromes
    M Rio
    Unité de Recherche sur les Handicaps Génétiques de l Enfant, INSERM U 393, et Département de Génétique, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 40:436-40. 2003
    ..We suggest therefore considering macrocephaly and facial gestalt as mandatory criteria for the diagnosis of Sotos syndrome and overgrowth and advanced bone age as minor criteria...
  6. ncbi request reprint Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation
    G Lesca
    Clin Genet 67:367-8. 2005