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Roberta Pietrobono

Showing results (1-10 of 21) with videos related to

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American Journal of Medical Genetics. Part A|January 19, 2010
Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier motherM Grazia Pomponi, Roberta Pietrobono, Caterina Neri, 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.
American Journal of Medical Genetics. Part A|February 14, 2006
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 familyElisabetta Tabolacci, M Grazia Pomponi, Roberta Pietrobono, et al.
Nucleic Acids Research|July 24, 2002
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidineRoberta Pietrobono, Maria Grazia Pomponi, Elisabetta Tabolacci, et al.
European Journal of Human Genetics : EJHG|March 3, 2005
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatmentsElisabetta Tabolacci, Roberta Pietrobono, Umberto Moscato, et al.
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|August 1, 2008
Correlation between GJB2 mutations and audiological deficits: personal experiencePasqualina M Picciotti, Roberta Pietrobono, Giovanni Neri, et al.
American Journal of Medical Genetics. Part A|February 13, 2009
A premature infant with Costello syndrome due to a rare G13C HRAS mutationMaria Piccione, Ettore Piro, Maria Grazia Pomponi, et al.
Human Molecular Genetics|November 26, 2004
Molecular dissection of the events leading to inactivation of the FMR1 geneRoberta Pietrobono, Elisabetta Tabolacci, Francesca Zalfa, et al.
European Journal of Human Genetics : EJHG|May 5, 2019
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndromeEugenio Sangiorgi, Alessia Azzarà, Clelia Molinario, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|January 19, 2010
Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier motherM Grazia Pomponi, Roberta Pietrobono, Caterina Neri, 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.
American Journal of Medical Genetics. Part A|February 14, 2006
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 familyElisabetta Tabolacci, M Grazia Pomponi, Roberta Pietrobono, et al.
Nucleic Acids Research|July 24, 2002
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidineRoberta Pietrobono, Maria Grazia Pomponi, Elisabetta Tabolacci, et al.
European Journal of Human Genetics : EJHG|March 3, 2005
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatmentsElisabetta Tabolacci, Roberta Pietrobono, Umberto Moscato, et al.
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|August 1, 2008
Correlation between GJB2 mutations and audiological deficits: personal experiencePasqualina M Picciotti, Roberta Pietrobono, Giovanni Neri, et al.
American Journal of Medical Genetics. Part A|February 13, 2009
A premature infant with Costello syndrome due to a rare G13C HRAS mutationMaria Piccione, Ettore Piro, Maria Grazia Pomponi, et al.
Human Molecular Genetics|November 26, 2004
Molecular dissection of the events leading to inactivation of the FMR1 geneRoberta Pietrobono, Elisabetta Tabolacci, Francesca Zalfa, et al.
European Journal of Human Genetics : EJHG|May 5, 2019
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndromeEugenio Sangiorgi, Alessia Azzarà, Clelia Molinario, et al.
Pageof 3