Borgione E - Search Results

1

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

Borgione E, Sturnio M, Spalletta A, Angela Lo Giudice M, Castiglia L, Galesi O, Ragusa A, Fichera M. Borgione E, et al. Hum Mutat. 2003 May;21(5):529-34. doi: 10.1002/humu.10183. Hum Mutat. 2003. PMID: 12673795

2

How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation.

Borgione E, Giudice ML, Galesi O, Castiglia L, Failla P, Romano C, Ragusa A, Fichera M. Borgione E, et al. J Med Genet. 2001 Jan;38(1):E1. doi: 10.1136/jmg.38.1.e1. J Med Genet. 2001. PMID: 11134240 Free PMC article. No abstract available.

3

A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?

Fichera M, Borgione E, Avola E, Amata S, Sturnio M, Romano C, Ragusa A. Fichera M, et al. Among authors: borgione e. J Med Genet. 2002 Apr;39(4):276-80. doi: 10.1136/jmg.39.4.276. J Med Genet. 2002. PMID: 11950858 Free PMC article. No abstract available.

4

Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.

Scuderi C, Borgione E, Musumeci S, Elia M, Castello F, Fichera M, Davidzon G, DiMauro S. Scuderi C, et al. Among authors: borgione e. Neuromuscul Disord. 2007 Mar;17(3):258-61. doi: 10.1016/j.nmd.2006.11.006. Epub 2007 Jan 22. Neuromuscul Disord. 2007. PMID: 17241783

5

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.

Scuderi C, Fichera M, Calabrese G, Elia M, Amato C, Savio M, Borgione E, Vitello GA, Musumeci SA. Scuderi C, et al. Among authors: borgione e. J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):440-3. doi: 10.1136/jnnp.2008.154807. J Neurol Neurosurg Psychiatry. 2009. PMID: 19289482

6

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Fichera M, Elia M, Amato C, Savio M, Di Blasi FD, Vitello GA, Romano S, DiMauro S, Musumeci SA. Scuderi C, et al. Among authors: borgione e. Mitochondrion. 2010 Aug;10(5):548-54. doi: 10.1016/j.mito.2010.04.004. Epub 2010 Apr 28. Mitochondrion. 2010. PMID: 20433951

7

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.

Scuderi C, Saccuzzo L, Vinci M, Castiglia L, Galesi O, Salemi M, Mattina T, Borgione E, Città S, Romano C, Fichera M. Scuderi C, et al. Among authors: borgione e. Eur J Hum Genet. 2019 Apr;27(4):594-602. doi: 10.1038/s41431-018-0321-1. Epub 2019 Jan 18. Eur J Hum Genet. 2019. PMID: 30659260 Free PMC article.

8

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, Di Blasi FD, Elia M, Amato C, Città S, Gagliano C, Barbarino G, Vitello GA, Musumeci SA. Scuderi C, et al. Among authors: borgione e. Neuromuscul Disord. 2015 Apr;25(4):333-9. doi: 10.1016/j.nmd.2015.01.004. Epub 2015 Jan 19. Neuromuscul Disord. 2015. PMID: 25660390 Review.

9

Expression of SpanX mRNA in testicular germ cell tumors.

Salemi M, Calogero AE, Bosco P, Castiglione R, La Vignera S, Borgione E, Rappazzo G, Vicari E. Salemi M, et al. Among authors: borgione e. Hum Cell. 2006 Aug;19(3):87-90. doi: 10.1111/j.1749-0774.2006.00014.x. Hum Cell. 2006. PMID: 17204091

10

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

Borgione E, Lo Giudice M, Castello F, Musumeci SA, Di Blasi FD, Savio M, Elia M, Rizzo B, Barbarino G, Romano S, Calabrese G, Di Benedetto D, Scuderi C. Borgione E, et al. Neurol Sci. 2013 Jul;34(7):1223-6. doi: 10.1007/s10072-013-1297-9. Epub 2013 Jan 25. Neurol Sci. 2013. PMID: 23354605

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