Affiliation: Centre Hospitalier Universitaire Vaudois
- A higher mutational burden in females supports a "female protective model" in neurodevelopmental disordersSebastien 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...
- 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...
- Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation studyDiana 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...
- Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriersLoyse 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. ..
- A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersFlore 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...
- Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndromeGiovanni 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...
- Size bias of fragile X premutation alleles in late-onset movement disordersSebastien 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...
- [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...
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locusSebastien 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...
- Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10Diana 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...
- Copy number variations and cognitive phenotypes in unselected populationsKatrin Männik
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland2Estonian Genome Center, University of Tartu, Tartu
JAMA 313:2044-54. 2015..The contribution of these genetic variants to cognitive phenotypes in the general population remains unclear...
- The challenges of clinical trials in fragile X syndromeSebastien Jacquemont
Service de Genetique Medicale, Centre Hospitalier Universitaire Vaudois, 1011, Lausanne, Switzerland
Psychopharmacology (Berl) 231:1237-50. 2014....
- 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...
- A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca
Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland Swiss Institute of Bioinformatics SIB, 1015 Lausanne, Switzerland
Am J Hum Genet 96:784-96. 2015..Our data suggest that dysregulation of ciliopathy genes contributes to the clinical phenotypes of these CNVs...
- Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker typeClaudine 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...
- Early neurological impairment and severe anemia in a newborn with Pearson syndromeAnne 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...
- 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...
- 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....
- 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...
- 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...
- 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..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...