Roberta Pietrobono - Concepedia

Author

Roberta Pietrobono

Università Cattolica del Sacro Cuore

Also Known As

R. Pietrobono, ROBERTA PIETROBONO, Roberta Pietrobono

Publications

888

Citations

H-Index

Concepts

All Affiliations

Università Cattolica del Sacro Cuore Agostino Gemelli University Polyclinic Ente Ospedaliero Ospedali Galliera University of Florence Istituti di Ricovero e Cura a Carattere Scientifico

About

Roberta Pietrobono is an author at Università Cattolica del Sacro Cuore specializing in medicine, genetics, and fragile x spectrum.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	500
2	Molecular Genetics	2	2	66
3	Natural Sciences	1	1	215
4	Cell Biology	1	1	215
5	Molecular Biology	1	1	215

Roberta Pietrobono

Publications

817

Citations

H-Index

Page 1

	Year	Citations
Synergistic Effect of Histone Hyperacetylation and DNA Demethylation in the Reactivation of the FMR1 Gene Pietro Chiurazzi, Maria Grazia Pomponi, Roberta Pietrobono, Human Molecular Genetics Histone ModificationsFmr1 ProteinEpigenetic ChangeGeneticsMolecular Biology	1999	215
Molecular dissection of the events leading to inactivation of the FMR1 gene Roberta Pietrobono, Elisabetta Tabolacci, Francesca Zalfa, Human Molecular Genetics	2004	132
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine Roberta Pietrobono Nucleic Acids Research	2002	117
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments Elisabetta Tabolacci, Roberta Pietrobono, Umberto Moscato, European Journal of Human Genetics ChromatinFragile X SyndromeFmr1 GeneMendelian DisorderGenetic Disorder	2005	91
A truncating mutation in the <i>IL1RAPL1</i> gene is responsible for X‐linked mental retardation in the MRX21 family Elisabetta Tabolacci, Maria Grazia Pomponi, Roberta Pietrobono, American Journal of Medical Genetics Part A GeneticsMolecular GeneticsMrx21 FamilyDisease Gene IdentificationEpigenetics	2006	56
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions Massimo Santoro, Marcella Masciullo, Roberta Pietrobono, Journal of Neurology Skeletal MuscleMedicinePathologyDegenerative DiseaseNeuromuscular Pathology	2012	39
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p Fiorella Gurrieri, Marcella Zollino, Antonio Oliva, European Journal of Human Genetics Chromosome 11PMendelian DisorderGenetic DisorderGeneticsPathology	2013	39
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey Alberto Sensi, Simona Cavani, Nicoletta Villa, Prenatal Diagnosis	2004	29
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy Elisabetta Tabolacci, Maria Grazia Pomponi, Roberta Pietrobono, European Journal of Human Genetics Developmental AnomalyNormal SizeGenetic DisorderGeneticsPediatrics	2007	25
A premature infant with Costello syndrome due to a rare G13C <i>HRAS</i> mutation Maria Piccione, Ettore Piro, Maria Grazia Pomponi, American Journal of Medical Genetics Part A Developmental AnomalyDevelopmental BiologyPremature MaleGenetic DisorderGenetics	2009	15

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