Nobile V - 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: nobile v. Genes (Basel). 2022 Jun 27;13(7):1161. doi: 10.3390/genes13071161. Genes (Basel). 2022. PMID: 35885943 Free PMC article.

2

Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome.

Tabolacci E, Palumbo F, Nobile V, Neri G. Tabolacci E, et al. Among authors: nobile v. Genes (Basel). 2016 Aug 17;7(8):49. doi: 10.3390/genes7080049. Genes (Basel). 2016. PMID: 27548224 Free PMC article. Review.

3

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.

Tabolacci E, Pomponi MG, Remondini L, Pietrobono R, Nobile V, Pennacchio G, Gurrieri F, Neri G, Genuardi M, Chiurazzi P. Tabolacci E, et al. Among authors: nobile v. Eur J Hum Genet. 2020 May;28(5):567-575. doi: 10.1038/s41431-019-0554-7. Epub 2019 Dec 5. Eur J Hum Genet. 2020. PMID: 31804632 Free PMC article.

4

Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.

Nobile V, Palumbo F, Lanni S, Ghisio V, Vitali A, Castagnola M, Marzano V, Maulucci G, De Angelis C, De Spirito M, Pacini L, D'Andrea L, Ragno R, Stazi G, Valente S, Mai A, Chiurazzi P, Genuardi M, Neri G, Tabolacci E. Nobile V, et al. Hum Genet. 2020 Feb;139(2):227-245. doi: 10.1007/s00439-019-02104-7. Epub 2020 Jan 9. Hum Genet. 2020. PMID: 31919630

5

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.

Tabolacci E, Pietrobono R, Maneri G, Remondini L, Nobile V, Della Monica M, Pomponi MG, Genuardi M, Neri G, Chiurazzi P. Tabolacci E, et al. Among authors: nobile v. Genes (Basel). 2020 Feb 26;11(3):248. doi: 10.3390/genes11030248. Genes (Basel). 2020. PMID: 32111011 Free PMC article.

6

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization.

Tabolacci E, Molinario C, Marangi G, Nobile V, Arena V, Mendes MI, Smith DEC, Salomons GS, Tana M, Costa S, Vento G, Genuardi M. Tabolacci E, et al. Among authors: nobile v. Clin Genet. 2021 Apr;99(4):601-603. doi: 10.1111/cge.13893. Epub 2020 Dec 13. Clin Genet. 2021. PMID: 33314043 No abstract available.

7

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome.

Nobile V, Pucci C, Chiurazzi P, Neri G, Tabolacci E. Nobile V, et al. Biomolecules. 2021 Feb 16;11(2):296. doi: 10.3390/biom11020296. Biomolecules. 2021. PMID: 33669384 Free PMC article. Review.

8

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Tabolacci E, Pomponi MG, Remondini L, Pietrobono R, Orteschi D, Nobile V, Pucci C, Musto E, Pane M, Mercuri EM, Neri G, Genuardi M, Chiurazzi P, Zollino M. Tabolacci E, et al. Among authors: nobile v. Genes (Basel). 2021 Nov 27;12(12):1909. doi: 10.3390/genes12121909. Genes (Basel). 2021. PMID: 34946857 Free PMC article.

9

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?

Tabolacci E, Nobile V, Pucci C, Chiurazzi P. Tabolacci E, et al. Among authors: nobile v. Int J Mol Sci. 2022 May 12;23(10):5425. doi: 10.3390/ijms23105425. Int J Mol Sci. 2022. PMID: 35628235 Free PMC article. Review.

10

Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals.

Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y, Nobile V, Tabolacci E, Jin P, Farace MG, Bagni C. Cencelli G, et al. Among authors: nobile v. Cells. 2023 Feb 27;12(5):758. doi: 10.3390/cells12050758. Cells. 2023. PMID: 36899894 Free PMC article.

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