Sebastien Jacquemont

Summary

Affiliation: Centre Hospitalier Universitaire Vaudois
Country: Switzerland

Publications

  1. ncbi Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1
    Sebastien Jacquemont
    Service de Genetique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Lancet Neurol 6:45-55. 2007
  2. ncbi Size bias of fragile X premutation alleles in late-onset movement disorders
    Sebastien Jacquemont
    , Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    J Med Genet 43:804-9. 2006
  3. ncbi [Array CGH: why and to whom]
    Alessandra Ferrarini
    Service de génétique médicale et Département médico chirurgical de pédiatrie, CHUV, 1011 Lausanne
    Rev Med Suisse 6:390-2, 394-6. 2010
  4. ncbi Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
    Sebastien Jacquemont
    Service de Genetique Medicale, Centre Hospitalier Universitaire Vaudois, CH 1011 Lausanne, Switzerland
    Sci Transl Med 3:64ra1. 2011
  5. ncbi Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
    Mov Disord 22:2018-30, quiz 2140. 2007
  6. ncbi Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
    James A Brunberg
    Department of Radiology, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA
    AJNR Am J Neuroradiol 23:1757-66. 2002
  7. ncbi Inherited ring chromosome 8 without loss of subtelomeric sequences
    Cedric Le Caignec
    Service de Genetique Medicale, Plateau Technique, Centre Hospitalo Universitaire, 9, quai Moncousu, 44093 Nantes Cedex, France
    Ann Genet 47:289-96. 2004
  8. ncbi Progression of tremor and ataxia in male carriers of the FMR1 premutation
    Maureen A Leehey
    Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262, USA
    Mov Disord 22:203-6. 2007
  9. ncbi Age-dependent cognitive changes in carriers of the fragile X syndrome
    Kim M Cornish
    Neuroscience Laboratory for Research and Education in Developmental Disorders, McGill University, Montreal, Canada
    Cortex 44:628-36. 2008

Collaborators

Detail Information

Publications9

  1. ncbi Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1
    Sebastien Jacquemont
    Service de Genetique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Lancet Neurol 6:45-55. 2007
    ..A similar mechanism is probably involved in premature ovarian failure, which affects up to 20% of female carriers of an altered FMR1 gene...
  2. ncbi Size bias of fragile X premutation alleles in late-onset movement disorders
    Sebastien Jacquemont
    , Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    J Med Genet 43:804-9. 2006
    ....
  3. ncbi [Array CGH: why and to whom]
    Alessandra Ferrarini
    Service de génétique médicale et Département médico chirurgical de pédiatrie, CHUV, 1011 Lausanne
    Rev Med Suisse 6:390-2, 394-6. 2010
    ..Examples of our practice will be presented...
  4. ncbi Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
    Sebastien Jacquemont
    Service de Genetique Medicale, Centre Hospitalier Universitaire Vaudois, CH 1011 Lausanne, Switzerland
    Sci Transl Med 3:64ra1. 2011
    ..If confirmed in larger and longer-term studies, these results suggest that blockade of the mGluR5 receptor in patients with full methylation at the FMR1 promoter may show improvement in the behavioral attributes of FXS...
  5. ncbi Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
    Mov Disord 22:2018-30, quiz 2140. 2007
    ..We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made...
  6. ncbi Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
    James A Brunberg
    Department of Radiology, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA
    AJNR Am J Neuroradiol 23:1757-66. 2002
    ..Recognition of these alterations may support a specific diagnosis and may have implications for the potential occurrence of fragile X syndrome in the children of reproductive age female relatives...
  7. ncbi Inherited ring chromosome 8 without loss of subtelomeric sequences
    Cedric Le Caignec
    Service de Genetique Medicale, Plateau Technique, Centre Hospitalo Universitaire, 9, quai Moncousu, 44093 Nantes Cedex, France
    Ann Genet 47:289-96. 2004
    ..These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence...
  8. ncbi Progression of tremor and ataxia in male carriers of the FMR1 premutation
    Maureen A Leehey
    Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262, USA
    Mov Disord 22:203-6. 2007
    ..Preliminary data on life expectancy are variable, with a range from 5 to 25 years...
  9. ncbi Age-dependent cognitive changes in carriers of the fragile X syndrome
    Kim M Cornish
    Neuroscience Laboratory for Research and Education in Developmental Disorders, McGill University, Montreal, Canada
    Cortex 44:628-36. 2008
    ....