Christele Dubourg

Summary

Country: France

Publications

  1. ncbi request reprint [Genetic study of holoprosencephaly]
    C Dubourg
    Laboratoire de Genetique Moleculaire, CHU Pontchaillou, 35033 Rennes
    Ann Biol Clin (Paris) 61:679-87. 2003
  2. ncbi request reprint Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations
    Christele Dubourg
    Laboratoire de Genetique Moleculaire, CHU Pontchaillou, Rennes, France
    Hum Mutat 24:43-51. 2004
  3. doi request reprint Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
    Christele Dubourg
    Laboratoire de Genetique Moleculaire, CHU Pontchaillou, Rennes, France
    Eur J Med Genet 54:144-51. 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 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
  6. ncbi request reprint Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
    Claude Bendavid
    Groupe Génétique Humaine, IFR140 GFAS, CNRS UMR 6061, Universite de Rennes1, 2 Avenue du Pr Leon Bernard, CS 34317, 35043 Rennes Cedex, France
    Hum Genet 119:1-8. 2006
  7. 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
  8. ncbi request reprint MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly
    Claude Bendavid
    Institut de Génétique et Développement de Rennes, Universite de Rennes1, Faculte de Medecine, Rennes, France
    Hum Mutat 28:1189-97. 2007
  9. ncbi request reprint Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations
    Céline Aguilella
    Service de Genetique Medicale, CHU Pontchaillou, Rennes, France
    Hum Genet 112:131-4. 2003
  10. doi request reprint Holoprosencephaly: An update on cytogenetic abnormalities
    Claude Bendavid
    Institut National de la Sante et de la Recherche Medicale, Rennes, France
    Am J Med Genet C Semin Med Genet 154:86-92. 2010

Collaborators

  • S Odent
  • Laurent Pasquier
  • Joris Andrieux
  • Cedric Le Caignec
  • Daniel Guerrier
  • Annick Toutain
  • Dominique Bonneau
  • Alain Verloes
  • Nicole Philip
  • Christel Thauvin
  • Carla Rosenberg
  • Damien Sanlaville
  • Anne Moncla
  • Debora R Bertola
  • Usha Kini
  • Pascale Saugier Veber
  • Claude Bendavid
  • Veronique David
  • Sylvie Jaillard
  • Isabelle Gicquel
  • Lucie Rochard
  • Valérie Dupé
  • Josette Lucas
  • Catherine Henry
  • Philippe Loget
  • Sandra Mercier
  • Jean Mosser
  • Karine Morcel
  • Marc Antoine Belaud-Rotureau
  • Albert David
  • Isabelle Pellerin
  • Tanguy Watrin
  • Leila Lazaro
  • Marie Renée Durou
  • Céline Aguilella
  • Marine Le Brun
  • Catherine Tréguier
  • Gwenaelle Le Bouar
  • Nicolas Garcelon
  • Timothy P Bohan
  • Patrice Poulain
  • Christel Thauvin-Robinet
  • Ghislaine Plessis
  • Isabelle Bertorello
  • Yann Le Pétillon
  • Bernard Jean Paniel
  • Marion Belleguic
  • Georges Bourrouillou
  • Leslie Ratié
  • Florence Demurger
  • Boris Campillo-Gimenez
  • Ana C V Krepischi
  • Chloé Quelin
  • Lydie Burglen
  • Andrée Delahaye
  • Hubert Journel
  • Severine Drunat
  • Azzedine Aboura
  • Agnes Guichet
  • Eva Pipiras
  • Brigitte Gilbert-Dussardier
  • Dominique Martin-Coignard
  • Amandine Etcheverry
  • Brigitte Benzacken
  • Jonathan Seguin
  • Pascale Marcorelles
  • Caroline Rouleau
  • Annie Laquerriere
  • Jaqueline Vigneron
  • Corinne Jeanne-Pasquier
  • Jean Leveque
  • Simon Le Gallou
  • Stephanie Mottier
  • Thierry Frebourg
  • Pascale Saugier-Veber
  • Bassem R Haddad
  • Martine Blayau
  • Jocelyne Attia-Sobol
  • Jacqueline Vigneron

Detail Information

Publications17

  1. ncbi request reprint [Genetic study of holoprosencephaly]
    C Dubourg
    Laboratoire de Genetique Moleculaire, CHU Pontchaillou, 35033 Rennes
    Ann Biol Clin (Paris) 61:679-87. 2003
    ..This study confirms the great genetic heterogeneity of the disease, the important phenotypic variability in holoprosencephalic families, and the absence of evident genotype-phenotype correlations...
  2. ncbi request reprint Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations
    Christele Dubourg
    Laboratoire de Genetique Moleculaire, CHU Pontchaillou, Rennes, France
    Hum Mutat 24:43-51. 2004
    ..This study confirms the great genetic heterogeneity of the disease, the important phenotypic variability in HPE families, and the difficulty to establish genotype-phenotype correlations...
  3. doi request reprint Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
    Christele Dubourg
    Laboratoire de Genetique Moleculaire, CHU Pontchaillou, Rennes, France
    Eur J Med Genet 54:144-51. 2011
    ..As this patient presents the classical phenotype of 17q21.31 syndrome, these data make it possible to define a new minimal critical region of 160.8 kb, strengthening the evidence for involvement of the MAPT gene in this syndrome...
  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 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...
  6. ncbi request reprint Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
    Claude Bendavid
    Groupe Génétique Humaine, IFR140 GFAS, CNRS UMR 6061, Universite de Rennes1, 2 Avenue du Pr Leon Bernard, CS 34317, 35043 Rennes Cedex, France
    Hum Genet 119:1-8. 2006
    ..3% of foetuses with normal karyotype. Detection can be achieved by the QMPSF testing method that proved to be efficient for testing several genes in a single assay...
  7. 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...
  8. ncbi request reprint MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly
    Claude Bendavid
    Institut de Génétique et Développement de Rennes, Universite de Rennes1, Faculte de Medecine, Rennes, France
    Hum Mutat 28:1189-97. 2007
    ..These findings reinforce the multihit origin for HPE and contribute to the explanation of the wide phenotypic spectrum described in this developmental disorder...
  9. ncbi request reprint Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations
    Céline Aguilella
    Service de Genetique Medicale, CHU Pontchaillou, Rennes, France
    Hum Genet 112:131-4. 2003
    ..The low number of mutations in TGIF suggests that this gene has no major contribution to the aetiology of HPE and our study confirms the wide clinical heterogeneity of the disease...
  10. doi request reprint Holoprosencephaly: An update on cytogenetic abnormalities
    Claude Bendavid
    Institut National de la Sante et de la Recherche Medicale, Rennes, France
    Am J Med Genet C Semin Med Genet 154:86-92. 2010
    ..The accumulation of recurrent genomic imbalances will lead to the further delineation of minimal critical HPE loci, which is the first step to the identification of new HPE genes...
  11. ncbi request reprint Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother
    Claude Bendavid
    CNRS UMR 6061, Genetique et Developpement, Universite de Rennes 1, IFR140 GFAS, Faculte de Medecine, 2, avenue du Profeseur Leon Bernard, Rennes 35043, France
    Eur J Med Genet 50:66-72. 2007
    ..The daughter presented isolated congenital aplasia of the uterus and vagina, the prime feature of the MRKH syndrome. This has not been described before in association with a 46,XX,del(4)(q34qter)...
  12. doi request reprint Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci
    Claude Bendavid
    Equipe Génétique des Pathologies Liées au Développement, UMR 6061 CNRS, IFR140 GFAS, Universite de Rennes1, Rennes Cedex, France
    Hum Mutat 30:1175-82. 2009
    ..Additionally, this study opens new insights on HPE candidate genes identification giving an updated HPE candidate loci map...
  13. 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...
  14. doi request reprint Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect
    Sylvie Jaillard
    Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France
    Eur J Med Genet 54:186-8. 2011
    ..Considering these results, the phenotype was linked to the de novo terminal 15q deletion. These results strengthen the assumption that array-CGH should be applied to each fetus/newborn with multiple congenital malformations...
  15. pmc NOTCH, a new signaling pathway implicated in holoprosencephaly
    Valérie Dupé
    Institut de Génétique et Développement, CNRS UMR6061, Universite de Rennes 1, IFR140 GFAS, Faculte de Medecine, Rennes, France
    Hum Mol Genet 20:1122-31. 2011
    ..Moreover, a mutation analysis of DLL1 in HPE patients revealed a three-nucleotide deletion. These various findings implicate DLL1 in early patterning of the forebrain and identify NOTCH as a new signaling pathway involved in HPE...
  16. doi request reprint 5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects
    Sylvie Jaillard
    Cytogenetics Department, Pontchaillou University Hospital, Rennes, France
    Am J Med Genet A 155:725-31. 2011
    ..Ocular defects, albeit unspecific, seem to be common in the 5q12.1 deletion. Identification of additional cases of deletions involving the 5q12.1 region will allow more accurate genotype-phenotype correlations...
  17. pmc First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations
    L Pasquier
    Unite de Genetique Medicale, Hopital Sud, Rennes, France
    J Med Genet 42:e4. 2005