Jacky Bonaventure

Summary

Country: France

Publications

  1. ncbi The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor
    Jacky Bonaventure
    Institut Curie, Universite Paris Sud, Orsay, and Department of Medical Genetics INSERM U393, Hopital Necker, Paris, France
    FEBS J 274:3078-93. 2007
  2. ncbi Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
    Elisabeth Lajeunie
    1INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 14:289-98. 2006
  3. ncbi [Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways]
    Jacky Bonaventure
    CNRS UMR 146, Institut Curie, Batiment 110, Centre Universitaire Paris Sud, 91405 Orsay, France
    Med Sci (Paris) 21:954-61. 2005
  4. ncbi Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations
    Sarah Cormier
    Institut National de la Santé et de la Recherche Médicale U426, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Paris, France
    Am J Pathol 161:1325-35. 2002
  5. ncbi Molecular and cellular bases of syndromic craniosynostoses
    Jacky Bonaventure
    INSERM U 393, Hopital Necker, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Expert Rev Mol Med 5:1-17. 2003
  6. ncbi Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders
    Bas W G van Rhijn
    Department of Pathology, Josephine Nefkens Institute, Erasmus University, 3000 DR Rotterdam, The Netherlands
    Eur J Hum Genet 10:819-24. 2002
  7. ncbi Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
    Christel Thauvin-Robinet
    Am J Med Genet A 119:81-4. 2003

Collaborators

  • Linda Gibbs
  • L Faivre
  • Elisabeth Lajeunie
  • Martine Le Merrer
  • Christel Thauvin-Robinet
  • Bas W G van Rhijn
  • Sarah Cormier
  • Vincent El Ghouzzi
  • Jelena Martinovic
  • Solange Heuertz
  • Dominique Renier
  • Patricia Lewin
  • Anne-Lise Delezoide
  • Irene Lurkin
  • Laurence Legeai-Mallet
  • Caroline Silve
  • Annie de Vries
  • Francois Radvanyi
  • Anne Lise Delezoide
  • Jean Paul Thiery
  • Catherine Benoist-Lasselin
  • Ellen C Zwarthoff
  • Theodorus H van der Kwast
  • Angela A G van Tilborg
  • Jean-Paul Thiery

Detail Information

Publications7

  1. ncbi The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor
    Jacky Bonaventure
    Institut Curie, Universite Paris Sud, Orsay, and Department of Medical Genetics INSERM U393, Hopital Necker, Paris, France
    FEBS J 274:3078-93. 2007
    ....
  2. ncbi Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
    Elisabeth Lajeunie
    1INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 14:289-98. 2006
    ..A limited number of recurrent amino-acid changes (W290C, Y340C, C342R and S351C) is commonly associated with the most severe Pfeiffer phenotypes of poor prognosis...
  3. ncbi [Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways]
    Jacky Bonaventure
    CNRS UMR 146, Institut Curie, Batiment 110, Centre Universitaire Paris Sud, 91405 Orsay, France
    Med Sci (Paris) 21:954-61. 2005
    ..Data from human diseases and relevant animal models provide new clues for understanding how signaling molecules and their interaction with key transcription factors control and regulate the development and growth of long bones...
  4. ncbi Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations
    Sarah Cormier
    Institut National de la Santé et de la Recherche Médicale U426, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Paris, France
    Am J Pathol 161:1325-35. 2002
    ....
  5. ncbi Molecular and cellular bases of syndromic craniosynostoses
    Jacky Bonaventure
    INSERM U 393, Hopital Necker, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Expert Rev Mol Med 5:1-17. 2003
    ....
  6. ncbi Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders
    Bas W G van Rhijn
    Department of Pathology, Josephine Nefkens Institute, Erasmus University, 3000 DR Rotterdam, The Netherlands
    Eur J Hum Genet 10:819-24. 2002
    ..From a clinical perspective, the patients with FGFR3-related, non-lethal skeletal disorders might be at a higher risk for development of bladder tumours than the general population...
  7. ncbi Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
    Christel Thauvin-Robinet
    Am J Med Genet A 119:81-4. 2003