Neri G - Search Results

1

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: neri g. Genes (Basel). 2021 Nov 27;12(12):1909. doi: 10.3390/genes12121909. Genes (Basel). 2021. PMID: 34946857 Free PMC article.

2

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. Among authors: neri g. Biomolecules. 2021 Feb 16;11(2):296. doi: 10.3390/biom11020296. Biomolecules. 2021. PMID: 33669384 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: neri g. 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

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: neri g. Genes (Basel). 2020 Feb 26;11(3):248. doi: 10.3390/genes11030248. Genes (Basel). 2020. PMID: 32111011 Free PMC article.

5

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: neri g. Genes (Basel). 2022 Jun 27;13(7):1161. doi: 10.3390/genes13071161. Genes (Basel). 2022. PMID: 35885943 Free PMC article.

6

Fragile X syndrome.

Terracciano A, Chiurazzi P, Neri G. Terracciano A, et al. Among authors: neri g. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):32-7. doi: 10.1002/ajmg.c.30062. Am J Med Genet C Semin Med Genet. 2005. PMID: 16010677 Review.

7

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. Among authors: neri g. 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

8

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.

Tabolacci E, Moscato U, Zalfa F, Bagni C, Chiurazzi P, Neri G. Tabolacci E, et al. Among authors: neri g. Eur J Hum Genet. 2008 Dec;16(12):1487-98. doi: 10.1038/ejhg.2008.130. Epub 2008 Jul 16. Eur J Hum Genet. 2008. PMID: 18628788

9

Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother.

Pomponi MG, Pietrobono R, Neri C, Chiurazzi P, Neri G. Pomponi MG, et al. Among authors: neri c, neri g. Am J Med Genet A. 2010 Feb;152A(2):409-12. doi: 10.1002/ajmg.a.33213. Am J Med Genet A. 2010. PMID: 20082462

10

The FRAXopathies: definition, overview, and update.

Pirozzi F, Tabolacci E, Neri G. Pirozzi F, et al. Among authors: neri g. Am J Med Genet A. 2011 Aug;155A(8):1803-16. doi: 10.1002/ajmg.a.34113. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739597 Review.

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