Laurent Pasquier

Summary

Country: France

Publications

  1. doi request reprint Karyotype is not dead (yet)!
    Laurent Pasquier
    Service de Genetique Medicale, CHU Hopital Sud, CLAD Ouest, Rennes, France Electronic address
    Eur J Med Genet 59:11-5. 2016
  2. 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
  3. 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
  4. 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
  5. 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
  6. pmc New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases
    Sandra Mercier
    Service de génétique clinique, CLAD Ouest, CHU Rennes, Rennes, France
    J Med Genet 48:752-60. 2011
  7. doi request reprint Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases
    Laurent Pasquier
    Medical Genetics Unit, Rennes University Hospital, Rennes, France
    Acta Neuropathol 117:185-200. 2009
  8. doi request reprint Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation
    Chloé Quelin
    Department of Developmental Biology, AP HP, Robert Debre University Hospital, Paris and Diderot University, Paris, France Clinical Genetics Unit, Rennes Sud University Hospital, Rennes, France
    Am J Med Genet A 164:2504-9. 2014
  9. doi request reprint Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion
    Marina Blanchard
    Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France
    Eur J Med Genet 57:195-9. 2014
  10. doi request reprint Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series
    Sylvie Jaillard
    Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France
    Eur J Med Genet 53:66-75. 2010

Collaborators

Detail Information

Publications15

  1. doi request reprint Karyotype is not dead (yet)!
    Laurent Pasquier
    Service de Genetique Medicale, CHU Hopital Sud, CLAD Ouest, Rennes, France Electronic address
    Eur J Med Genet 59:11-5. 2016
    ..If these technologies cannot easily identify chromosomal translocations or inversions which sometimes split a gene, karyotype can...
  2. 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...
  3. 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
    ....
  4. 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...
  5. 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...
  6. pmc New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases
    Sandra Mercier
    Service de génétique clinique, CLAD Ouest, CHU Rennes, Rennes, France
    J Med Genet 48:752-60. 2011
    ..Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon...
  7. doi request reprint Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases
    Laurent Pasquier
    Medical Genetics Unit, Rennes University Hospital, Rennes, France
    Acta Neuropathol 117:185-200. 2009
    ....
  8. doi request reprint Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation
    Chloé Quelin
    Department of Developmental Biology, AP HP, Robert Debre University Hospital, Paris and Diderot University, Paris, France Clinical Genetics Unit, Rennes Sud University Hospital, Rennes, France
    Am J Med Genet A 164:2504-9. 2014
    ..We narrowed some critical regions previously reported for lung, kidney and fetal growth, and for thumb, cerebral, and eye anomalies...
  9. doi request reprint Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion
    Marina Blanchard
    Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France
    Eur J Med Genet 57:195-9. 2014
    ..Furthermore, some features may be reciprocal. This history of intrachromosomal insertion highlights the importance of morphological cytogenetic analyses to provide an accurate genetic counseling...
  10. doi request reprint Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series
    Sylvie Jaillard
    Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France
    Eur J Med Genet 53:66-75. 2010
    ..For all the pathogenic CNVs, further cases are needed to allow more accurate genotype-phenotype correlations underscoring the importance of databases to group patients with similar molecular data...
  11. doi request reprint Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress
    Chloé Quelin
    Service de Genetique Medicale, CHU Hopital Sud, Rennes Cedex 2, France
    Eur J Med Genet 52:41-6. 2009
    ..1 is implicated in lens cell proliferation and differentiation for congenital cataract; GPC5 in 13q32 is mainly expressed in the mesenchyme of the developing limb bud for upper limb anomalies...
  12. pmc New insights into genotype-phenotype correlation for GLI3 mutations
    Florence Demurger
    Service de génétique clinique, CLAD Ouest, Hopital Sud, Rennes, France
    Eur J Hum Genet 23:92-102. 2015
    ..GLI3 expression studied by in situ hybridization during human development confirms its early expression in target tissues. ..
  13. doi request reprint Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
    Gaelle Thierry
    CHU Nantes, Service de Genetique Medicale, Nantes, France
    Am J Med Genet A 158:1633-40. 2012
    ..These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for ID and seizures...
  14. 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...
  15. doi request reprint Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
    Marie Vincent
    Service de Genetique Medicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France
    Genet Med 18:49-56. 2016
    ..TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C...