Tabolacci E - Search Results

1

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.

Lo Vecchio F, Tabolacci E, Nobile V, Pomponi MG, Pietrobono R, Neri G, Amenta S, Candida E, Grippaudo C, Lo Cascio E, Vita A, Tiberio F, Arcovito A, Lattanzi W, Genuardi M, Chiurazzi P. Lo Vecchio F, et al. Among authors: tabolacci e. Genes (Basel). 2022 Jun 27;13(7):1161. doi: 10.3390/genes13071161. Genes (Basel). 2022. PMID: 35885943 Free PMC article.

2

Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine.

Pietrobono R, Pomponi MG, Tabolacci E, Oostra B, Chiurazzi P, Neri G. Pietrobono R, et al. Among authors: tabolacci e. Nucleic Acids Res. 2002 Jul 15;30(14):3278-85. doi: 10.1093/nar/gkf434. Nucleic Acids Res. 2002. PMID: 12136110 Free PMC article.

3

X-linked mental retardation (XLMR): from clinical conditions to cloned genes.

Chiurazzi P, Tabolacci E, Neri G. Chiurazzi P, et al. Among authors: tabolacci e. Crit Rev Clin Lab Sci. 2004;41(2):117-58. doi: 10.1080/10408360490443013. Crit Rev Clin Lab Sci. 2004. PMID: 15270552 Review.

4

Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome.

Chiurazzi P, Bajer J, Tabolacci E, Pomponi MG, Lecce R, Zollino M, Neri G. Chiurazzi P, et al. Among authors: tabolacci e. Am J Med Genet A. 2004 Oct 15;130A(3):315-6. doi: 10.1002/ajmg.a.30300. Am J Med Genet A. 2004. PMID: 15378537

5

Molecular dissection of the events leading to inactivation of the FMR1 gene.

Pietrobono R, Tabolacci E, Zalfa F, Zito I, Terracciano A, Moscato U, Bagni C, Oostra B, Chiurazzi P, Neri G. Pietrobono R, et al. Among authors: tabolacci e. Hum Mol Genet. 2005 Jan 15;14(2):267-77. doi: 10.1093/hmg/ddi024. Epub 2004 Nov 24. Hum Mol Genet. 2005. PMID: 15563507

6

Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments.

Tabolacci E, Pietrobono R, Moscato U, Oostra BA, Chiurazzi P, Neri G. Tabolacci E, et al. Eur J Hum Genet. 2005 May;13(5):641-8. doi: 10.1038/sj.ejhg.5201393. Eur J Hum Genet. 2005. PMID: 15741991

7

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.

Tabolacci E, Pomponi MG, Pietrobono R, Terracciano A, Chiurazzi P, Neri G. Tabolacci E, et al. Am J Med Genet A. 2006 Mar 1;140(5):482-7. doi: 10.1002/ajmg.a.31107. Am J Med Genet A. 2006. PMID: 16470793

8

Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients.

Modoni A, Contarino MF, Bentivoglio AR, Tabolacci E, Santoro M, Calcagni ML, Tonali PA, Neri G, Silvestri G. Modoni A, et al. Among authors: tabolacci e. Mov Disord. 2007 Feb 15;22(3):324-7. doi: 10.1002/mds.21228. Mov Disord. 2007. PMID: 17149720

9

A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability.

Zalfa F, Eleuteri B, Dickson KS, Mercaldo V, De Rubeis S, di Penta A, Tabolacci E, Chiurazzi P, Neri G, Grant SG, Bagni C. Zalfa F, et al. Among authors: tabolacci e. Nat Neurosci. 2007 May;10(5):578-87. doi: 10.1038/nn1893. Epub 2007 Apr 8. Nat Neurosci. 2007. PMID: 17417632 Free PMC article.

10

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.

Tabolacci E, Pomponi MG, Pietrobono R, Chiurazzi P, Neri G. Tabolacci E, et al. Eur J Hum Genet. 2008 Feb;16(2):209-14. doi: 10.1038/sj.ejhg.5201949. Epub 2007 Oct 31. Eur J Hum Genet. 2008. PMID: 17971832

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