Laurent Pasquier

Summary

Country: France

Publications

  1. ncbi Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
    L Pasquier
    Unité de Génétique Clinique, Hopital Sud, 35203 Rennes, France
    Arch Dis Child 91:178-82. 2006
  2. ncbi Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci
    Karine Morcel
    CNRS UMR 6061, Institut de Génétique et Développement de Rennes, IFR 140 GFAS, Faculte de Medecine, 2 avenue du Professeur Léon Bernard CS 34317, 35043 Rennes Cedex, France
    Orphanet J Rare Dis 6:9. 2011
  3. ncbi Holoprosencephaly
    Christele Dubourg
    UMR 6061 CNRS, Institut de Génétique et Développement de Rennes, Universite de Rennes1, IFR 140 GFAS, Faculte de Medecine, Rennes, 35000, France
    Orphanet J Rare Dis 2:8. 2007
  4. ncbi The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches
    Daniel Guerrier
    CNRS UMR 6061, Genetique et Developpement, Universite de Rennes 1, Groupe IPD, IFR140 GFAS, Faculte de Medecine, Rennes, France
    J Negat Results Biomed 5:1. 2006

Collaborators

  • S Odent
  • Christele Dubourg
  • Daniel Guerrier
  • Karine Morcel
  • Veronique David
  • Claude Bendavid
  • Isabelle Pellerin
  • Lucie Rochard
  • Bernard Jean Paniel
  • Philippe Loget
  • Cedric Le Caignec
  • Tanguy Watrin
  • Catherine Henry
  • Thomas Mouchel

Detail Information

Publications4

  1. ncbi Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
    L Pasquier
    Unité de Génétique Clinique, Hopital Sud, 35203 Rennes, France
    Arch Dis Child 91:178-82. 2006
    ....
  2. ncbi Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci
    Karine Morcel
    CNRS UMR 6061, Institut de Génétique et Développement de Rennes, IFR 140 GFAS, Faculte de Medecine, 2 avenue du Professeur Léon Bernard CS 34317, 35043 Rennes Cedex, France
    Orphanet J Rare Dis 6:9. 2011
    ..Its etiology remains poorly understood. Thus the phenotypic manifestations of MRKH and DGS overlap suggesting a possible genetic link. This would potentially have clinical consequences...
  3. ncbi Holoprosencephaly
    Christele Dubourg
    UMR 6061 CNRS, Institut de Génétique et Développement de Rennes, Universite de Rennes1, IFR 140 GFAS, Faculte de Medecine, Rennes, 35000, France
    Orphanet J Rare Dis 2:8. 2007
    ..Child outcome depends on the HPE severity and the medical and neurological complications associated. Severely affected children have a very poor prognosis. Mildly affected children may exhibit few symptoms and may live a normal life...
  4. ncbi The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches
    Daniel Guerrier
    CNRS UMR 6061, Genetique et Developpement, Universite de Rennes 1, Groupe IPD, IFR140 GFAS, Faculte de Medecine, Rennes, France
    J Negat Results Biomed 5:1. 2006
    ..Expression and/or function defects of one or several HOX genes may account for this syndrome...