Affiliation: Centre Hospitalier Universitaire Vaudois
- Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1Sebastien 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...
- Size bias of fragile X premutation alleles in late-onset movement disordersSebastien Jacquemont
, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
J Med Genet 43:804-9. 2006....
- [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...
- Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056Sebastien 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...
- Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelinesElizabeth 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...
- Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunctionJames 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...
- Inherited ring chromosome 8 without loss of subtelomeric sequencesCedric 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...
- Progression of tremor and ataxia in male carriers of the FMR1 premutationMaureen 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...
- Age-dependent cognitive changes in carriers of the fragile X syndromeKim M Cornish
Neuroscience Laboratory for Research and Education in Developmental Disorders, McGill University, Montreal, Canada
Cortex 44:628-36. 2008....