Sebastien Jacquemont

Summary

Affiliation: Centre Hospitalier Universitaire Vaudois
Country: Switzerland

Publications

  1. ncbi request reprint A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders
    Sebastien Jacquemont
    Service of Medical Genetics, University Hospital of Lausanne, University of Lausanne, Lausanne 1011, Switzerland Electronic address
    Am J Hum Genet 94:415-25. 2014
  2. ncbi request reprint 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
  3. doi request reprint Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study
    Diana Ballhausen
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, CI 02 35, Av P Decker 2, 1011 Lausanne, Switzerland
    J Inherit Metab Dis 33:S219-26. 2010
  4. doi request reprint Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome
    Giovanni Battistella
    Department of Radiology, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland
    Neurobiol Aging 34:1700-7. 2013
  5. pmc A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
    Flore Zufferey
    Service de Genetique Medicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    J Med Genet 49:660-8. 2012
  6. ncbi request reprint Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers
    Loyse Hippolyte
    Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland
    Neurobiol Aging 35:1939-46. 2014
  7. pmc Size bias of fragile X premutation alleles in late-onset movement disorders
    Sebastien Jacquemont
    Service de Genetique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    J Med Genet 43:804-9. 2006
  8. ncbi request reprint [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
  9. pmc Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
    Sebastien Jacquemont
    Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland
    Nature 478:97-102. 2011
  10. pmc Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10
    Diana Marek
    Department of Medical Genetics, University of Lausanne, Rue du Bugnon 27, Lausanne, 1005, Switzerland
    J Neuroinflammation 9:238. 2012

Detail Information

Publications19

  1. ncbi request reprint A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders
    Sebastien Jacquemont
    Service of Medical Genetics, University Hospital of Lausanne, University of Lausanne, Lausanne 1011, Switzerland Electronic address
    Am J Hum Genet 94:415-25. 2014
    ..Carefully phenotyped and genotyped cohorts will be required for identifying the symptoms, which show gender-specific liability to mutational burden...
  2. ncbi request reprint 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...
  3. doi request reprint Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study
    Diana Ballhausen
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, CI 02 35, Av P Decker 2, 1011 Lausanne, Switzerland
    J Inherit Metab Dis 33:S219-26. 2010
    ..A threshold of more than 45% heteroplasmy in muscle seems to be necessary to alter complex I activity leading to clinical manifestation. The presented data may be helpful for prognostic considerations and counseling in affected families...
  4. doi request reprint Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome
    Giovanni Battistella
    Department of Radiology, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland
    Neurobiol Aging 34:1700-7. 2013
    ..In contrast, progression of the diffuse cerebral hemispheric white matter changes suggests a neurodegenerative process, leading to late-onset lesions, which may mark the imminent onset of FXTAS...
  5. pmc A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
    Flore Zufferey
    Service de Genetique Medicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    J Med Genet 49:660-8. 2012
    ..The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders...
  6. ncbi request reprint Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers
    Loyse Hippolyte
    Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland
    Neurobiol Aging 35:1939-46. 2014
    ..This may be interpreted as a neurodevelopmental effect of the premutation, and longitudinal studies are required to better understand these mechanisms. ..
  7. pmc Size bias of fragile X premutation alleles in late-onset movement disorders
    Sebastien Jacquemont
    Service de Genetique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    J Med Genet 43:804-9. 2006
    ..However, the prevalence of FXTAS within other diagnostic categories is not well defined...
  8. ncbi request reprint [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...
  9. pmc Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
    Sebastien Jacquemont
    Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland
    Nature 478:97-102. 2011
    ..The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance...
  10. pmc Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10
    Diana Marek
    Department of Medical Genetics, University of Lausanne, Rue du Bugnon 27, Lausanne, 1005, Switzerland
    J Neuroinflammation 9:238. 2012
    ..Abnormal immunological patterns are often associated with neurodegenerative disorders and implicated in their etiology. We therefore investigated the immune status of FXTAS patients, which had not been assessed prior to this study...
  11. doi request reprint The challenges of clinical trials in fragile X syndrome
    Sebastien Jacquemont
    Service de Genetique Medicale, Centre Hospitalier Universitaire Vaudois, 1011, Lausanne, Switzerland
    Psychopharmacology (Berl) 231:1237-50. 2014
    ....
  12. doi request reprint 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...
  13. doi request reprint Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type
    Claudine Rieubland
    Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Eur J Med Genet 53:294-8. 2010
    ..After termination of pregnancy, radiographs showed short ribs, short and bent long bones and anisospondyly of two vertebral bodies. The fetus was homozygous for a previously undescribed null mutation in HSPG2...
  14. doi request reprint Early neurological impairment and severe anemia in a newborn with Pearson syndrome
    Anne Sophie Morel
    Division of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, CHUV, 1011, Lausanne, Switzerland
    Eur J Pediatr 168:311-5. 2009
    ..PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA). The tissue distribution and relative proportions of expressed abnormal mtDNA determine the phenotype and the clinical course...
  15. ncbi request reprint 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...
  16. ncbi request reprint 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...
  17. ncbi request reprint 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...
  18. doi request reprint 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
    ....
  19. ncbi request reprint 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
    ..Our purpose was to characterize the findings of MR imaging of the brain of adult male fragile X premutation carriers with a recently identified disorder characterized by ataxia, tremor, rigidity, and cognitive dysfunction...