Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency

ανά Jacquemont, Sebastien, Birnbaum, Stefanie, Redler, Silke, Steinbach, Peter, Biancalana, Valérie
Έκδοση 2011

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

ανά Valsesia, Armand, Macé, Aurélien, Jacquemont, Sébastien, Beckmann, Jacques S., Kutalik, Zoltán
Έκδοση 2013

Size bias of fragile X premutation alleles in late‐onset movement disorders

ανά Jacquemont, Sebastien, Leehey, Maureen A, Hagerman, Randi J, Beckett, Laurel A, Hagerman, Paul J
Έκδοση 2006

Lifespan changes in working memory in fragile X premutation males

ανά Cornish, Kim M., Kogan, Cary S., Li, Lexin, Turk, Jeremy, Jacquemont, Sebastien, Hagerman, Randi J.
Έκδοση 2008

Structural and functional brain alterations revealed by neuroimaging in CNV carriers

ανά Moreau, Clara A., Ching, Christopher R. K., Kumar, Kuldeep, Jacquemont, Sebastien, Bearden, Carrie E.
Τόπος έκδοσης Curr Opin Genet Dev (2021)

Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism

ανά Mottron, Laurent, Duret, Pauline, Mueller, Sophia, Moore, Robert D, Forgeot d’Arc, Baudouin, Jacquemont, Sebastien, Xiong, Lan
Τόπος έκδοσης Mol Autism (2015)

The Efficacy of Melatonin for Sleep Problems in Children with Autism, Fragile X Syndrome, or Autism and Fragile X Syndrome

ανά Wirojanan, Juthamas, Jacquemont, Sebastien, Diaz, Rafael, Bacalman, Susan, Anders, Thomas F., Hagerman, Randi J., Goodlin-Jones, Beth L.
Έκδοση 2009

Clinimetric Properties of the Fragile X‐associated Tremor Ataxia Syndrome Rating Scale

ανά Hall, Deborah A., Stebbins, Glenn T., Jacquemont, Sebastien, Berry‐Kravis, Elizabeth, Goetz, Christopher G., Hagerman, Randi, Zhang, Lin, Leehey, Maureen A.
Τόπος έκδοσης Mov Disord Clin Pract (2019)

Bayonet-shaped language development in autism with regression: a retrospective study

ανά Gagnon, David, Zeribi, Abderrahim, Douard, Élise, Courchesne, Valérie, Rodríguez-Herreros, Borja, Huguet, Guillaume, Jacquemont, Sébastien, Loum, Mor Absa, Mottron, Laurent
Τόπος έκδοσης Mol Autism (2021)

The challenges of clinical trials in fragile X syndrome

ανά Jacquemont, Sébastien, Berry-Kravis, Elizabeth, Hagerman, Randi, von Raison, Florian, Gasparini, Fabrizio, Apostol, George, Ufer, Mike, Des Portes, Vincent, Gomez-Mancilla, Baltazar
Έκδοση 2013

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

ανά Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., Eichler, Evan E.
Έκδοση 2014

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach

ανά Knoth, Inga Sophia, Lajnef, Tarek, Rigoulot, Simon, Lacourse, Karine, Vannasing, Phetsamone, Michaud, Jacques L., Jacquemont, Sébastien, Major, Philippe, Jerbi, Karim, Lippé, Sarah
Τόπος έκδοσης J Neurodev Disord (2018)

Transmission Disequilibrium of Small CNVs in Simplex Autism

ανά Krumm, Niklas, O’Roak, Brian J., Karakoc, Emre, Mohajeri, Kiana, Nelson, Ben, Vives, Laura, Jacquemont, Sebastien, Munson, Jeff, Bernier, Raphe, Eichler, Evan E.
Έκδοση 2013

In-vivo probabilistic atlas of human thalamic nuclei based on diffusion- weighted magnetic resonance imaging

ανά Najdenovska, Elena, Alemán-Gómez, Yasser, Battistella, Giovanni, Descoteaux, Maxime, Hagmann, Patric, Jacquemont, Sebastien, Maeder, Philippe, Thiran, Jean-Philippe, Fornari, Eleonora, Bach Cuadra, Meritxell
Τόπος έκδοσης Sci Data (2018)

Robust thalamic nuclei segmentation method based on local diffusion magnetic resonance properties

ανά Battistella, Giovanni, Najdenovska, Elena, Maeder, Philippe, Ghazaleh, Naghmeh, Daducci, Alessandro, Thiran, Jean-Philippe, Jacquemont, Sébastien, Tuleasca, Constantin, Levivier, Marc, Bach Cuadra, Meritxell, Fornari, Eleonora
Τόπος έκδοσης Brain Struct Funct (2016)

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents

ανά Hagerman, Randi, Jacquemont, Sebastien, Berry-Kravis, Elizabeth, Des Portes, Vincent, Stanfield, Andrew, Koumaras, Barbara, Rosenkranz, Gerd, Murgia, Alessandra, Wolf, Christian, Apostol, George, von Raison, Florian
Τόπος έκδοσης Sci Rep (2018)

Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10

ανά Marek, Diana, Papin, Stephanie, Ellefsen, Kim, Niederhauser, Julien, Isidor, Nathalie, Ransijn, Adriana, Poupon, Lucienne, Spertini, Francois, Pantaleo, Giuseppe, Bergmann, Sven, Beckmann, Jacques S, Jacquemont, Sebastien, Tanackovic, Goranka
Έκδοση 2012

Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction

ανά Brunberg, James A., Jacquemont, Sebastien, Hagerman, Randi J., Berry-Kravis, Elizabeth M., Grigsby, Jim, Leehey, Maureen A., Tassone, Flora, Brown, W. Ted, Greco, Claudia M., Hagerman, Paul J.
Τόπος έκδοσης AJNR Am J Neuroradiol (2002)

KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV

ανά Golzio, Christelle, Willer, Jason, Talkowski, Michael E, Oh, Edwin C, Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F, Kamiya, Atsushi, Beckmann, Jacques S, Katsanis, Nicholas
Έκδοση 2012

Neuropathological, Clinical, and Molecular Pathology in Female Fragile X Premutation Carriers with and without FXTAS

ανά Tassone, Flora, Greco, Claudia M., Hunsaker, Michael R., Seritan, Andreea L., Berman, Robert F., Gane, Louise W., Jacquemont, Sebastien, Basuta, Kirin, Jin, Lee-Way, Hagerman, Paul J., Hagerman, Randi J.
Έκδοση 2012