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American Journal of Medical Genetics. Part A|July 9, 2011
The FRAXopathies: definition, overview, and updateFilomena Pirozzi, Elisabetta Tabolacci, Giovanni Neri
BMC Medical Genetics|March 9, 2012
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitroElisabetta Tabolacci, Filomena Pirozzi, Baltazar Gomez-Mancilla, et al.
Methods in Molecular Biology (Clifton, N.J.)|June 12, 2013
Epigenetic modifications of the FMR1 geneElisabetta Tabolacci, Giovanni Neri
Critical Reviews in Clinical Laboratory Sciences|July 24, 2004
X-linked mental retardation (XLMR): from clinical conditions to cloned genesPietro Chiurazzi, Elisabetta Tabolacci, Giovanni Neri
Human Mutation|July 29, 2011
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian familyFilomena Pirozzi, Francesca Romana Di Raimo, Ginevra Zanni, et al.
Genes|August 23, 2016
Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X SyndromeElisabetta Tabolacci, Federica Palumbo, Veronica Nobile, et al.
Biomolecules|March 6, 2021
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X SyndromeVeronica Nobile, Cecilia Pucci, Pietro Chiurazzi, et al.
European Journal of Human Genetics : EJHG|November 1, 2007
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boyElisabetta Tabolacci, Maria Grazia Pomponi, Roberta Pietrobono, et al.
American Journal of Medical Genetics. Part A|October 15, 2016
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issueAlessandro Vaisfeld, Maria Grazia Pomponi, Roberta Pietrobono, et al.
European Journal of Human Genetics : EJHG|July 17, 2008
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutationsElisabetta Tabolacci, Umberto Moscato, Francesca Zalfa, et al.
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