Laurent Pasquier

Summary

Country: France

Publications

  1. pmc CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
    Ennio Del Giudice
    Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy
    Orphanet J Rare Dis 9:74. 2014
  2. pmc 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
  3. pmc 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
  4. pmc 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
  5. pmc 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
  • Ennio Del Giudice
  • Karine Morcel
  • Veronique David
  • Claude Bendavid
  • Isabelle Pellerin
  • Brunella Franco
  • Veronique Stamboul-Darmency
  • Christel Thauvin-Robinet
  • Stanislas Lyonnet
  • Valérie Layet
  • Marina Macca
  • Philippe Parent
  • Floriana Imperati
  • Alessandra D'Amico
  • Bernard Jean Paniel
  • Philippe Loget
  • Tanguy Watrin
  • Lucie Rochard
  • Cedric Le Caignec
  • Catherine Henry
  • Thomas Mouchel

Detail Information

Publications5

  1. pmc CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
    Ennio Del Giudice
    Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy
    Orphanet J Rare Dis 9:74. 2014
    ..With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder...
  2. pmc 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
    ....
  3. pmc 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...
  4. pmc 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...
  5. pmc 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...