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Journal of Human Genetics|May 20, 2011
Investigation of modifier genes within copy number variations in Rett syndromeRosangela Artuso, Filomena T Papa, Elisa Grillo, et al.
The Journal of Clinical Psychiatry|April 5, 2018
Relationships Between Self-Injurious Behaviors, Pain Reactivity, and β-Endorphin in Children and Adolescents With AutismSylvie Tordjman, George M Anderson, Annaëlle Charrier, et al.
Frontiers in Psychology|May 29, 2019
Exploring Self-Consciousness From Self- and Other-Image Recognition in the Mirror: Concepts and EvaluationGaëlle Keromnes, Sylvie Chokron, Macarena-Paz Celume, et al.
European Journal of Medical Genetics|July 29, 2008
Private inherited microdeletion/microduplications: implications in clinical practiceMaria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, et al.
European Psychiatry : the Journal of the Association of European Psychiatrists|September 11, 2023
Autism care pathway in EuropeMaria A Mendez, Bethany Oakley, Roberto Canitano, et al.
Human Molecular Genetics|May 27, 2005
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeFrancesca Mari, Sara Azimonti, Ilaria Bertani, et al.
Molecular Autism|June 14, 2013
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiencyLatha Soorya, Alexander Kolevzon, Jessica Zweifach, et al.
Brain & Development|December 22, 2005
Global developmental delay, osteopenia and ectodermal defect: a new syndromeRaffaella Zannolli, Sabrina Buoni, Francesca Macucci, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 8, 2024
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language developmentBenoit Mazel, Julian Delanne, Aurore Garde, et al.
Neuropediatrics|March 21, 2012
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 casesGiorgio Pini, Stefania Bigoni, Ingegerd Witt Engerström, et al.
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