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XLMR genes: update 2000.
Chiurazzi P, Hamel BC, Neri G. Chiurazzi P, et al. Eur J Hum Genet. 2001 Feb;9(2):71-81. doi: 10.1038/sj.ejhg.5200603. Eur J Hum Genet. 2001. PMID: 11313739 Review.
XLMR genes: update 2007.
Chiurazzi P, Schwartz CE, Gecz J, Neri G. Chiurazzi P, et al. Eur J Hum Genet. 2008 Apr;16(4):422-34. doi: 10.1038/sj.ejhg.5201994. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197188 Review.
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation.
Shaw MA, Chiurazzi P, Romain DR, Neri G, G├ęcz J. Shaw MA, et al. Among authors: chiurazzi p. Eur J Hum Genet. 2002 Nov;10(11):767-72. doi: 10.1038/sj.ejhg.5200881. Eur J Hum Genet. 2002. PMID: 12404111
Expansion to full mutation of a FMR1 intermediate allele over two generations.
Terracciano A, Pomponi MG, Marino GM, Chiurazzi P, Rinaldi MM, Dobosz M, Neri G. Terracciano A, et al. Among authors: chiurazzi p. Eur J Hum Genet. 2004 Apr;12(4):333-6. doi: 10.1038/sj.ejhg.5201154. Eur J Hum Genet. 2004. PMID: 14735162
Defining the role of the CGGBP1 protein in FMR1 gene expression.
Goracci M, Lanni S, Mancano G, Palumbo F, Chiurazzi P, Neri G, Tabolacci E. Goracci M, et al. Among authors: chiurazzi p. Eur J Hum Genet. 2016 May;24(5):697-703. doi: 10.1038/ejhg.2015.182. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306647 Free PMC article.
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: chiurazzi p. 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
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: chiurazzi p. 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
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. Among authors: chiurazzi p. Eur J Hum Genet. 2005 May;13(5):641-8. doi: 10.1038/sj.ejhg.5201393. Eur J Hum Genet. 2005. PMID: 15741991
X-linked mental retardation (XLMR): from clinical conditions to cloned genes.
Chiurazzi P, Tabolacci E, Neri G. Chiurazzi P, et al. Crit Rev Clin Lab Sci. 2004;41(2):117-58. doi: 10.1080/10408360490443013. Crit Rev Clin Lab Sci. 2004. PMID: 15270552 Review.
Syndromic XLMR genes (MRXS): update 2000.
Hamel BC, Chiurazzi P, Lubs HA. Hamel BC, et al. Among authors: chiurazzi p. Am J Med Genet. 2000 Oct 23;94(5):361-3. doi: 10.1002/1096-8628(20001023)94:5<361::aid-ajmg2>3.0.co;2-u. Am J Med Genet. 2000. PMID: 11050617 Review. No abstract available.
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