Di Benedetto D - Search Results

1

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.

Di Benedetto D, Di Vita G, Romano C, Giudice ML, Vitello GA, Zingale M, Grillo L, Castiglia L, Musumeci SA, Fichera M. Di Benedetto D, et al. Among authors: di vita g. Mol Cytogenet. 2013 Jan 17;6(1):4. doi: 10.1186/1755-8166-6-4. Mol Cytogenet. 2013. PMID: 23324214 Free PMC article.

2

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.

Grillo L, Greco D, Pettinato R, Avola E, Potenza N, Castiglia L, Spalletta A, Amata S, Di Benedetto D, Luciano D, Romano C, Fichera M. Grillo L, et al. Among authors: di benedetto d. Gene. 2014 Jan 25;534(2):435-9. doi: 10.1016/j.gene.2013.09.120. Epub 2013 Oct 8. Gene. 2014. PMID: 24120895

3

Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.

Di Benedetto D, Musumeci SA, Avola E, Alberti A, Buono S, Scuderi C, Grillo L, Galesi O, Spalletta A, Giudice ML, Luciano D, Vinci M, Bianca S, Romano C, Fichera M. Di Benedetto D, et al. Am J Med Genet A. 2014 Aug;164A(8):1923-30. doi: 10.1002/ajmg.a.36570. Epub 2014 Apr 14. Am J Med Genet A. 2014. PMID: 24733578

4

12q12 deletion: a new patient contributing to genotype-phenotype correlation.

Failla P, Romano C, Reitano S, Di Benedetto D, Grillo L, Fichera M, Castiglia L. Failla P, et al. Among authors: di benedetto d. Am J Med Genet A. 2008 May 15;146A(10):1354-7. doi: 10.1002/ajmg.a.32280. Am J Med Genet A. 2008. PMID: 18412123 No abstract available.

5

Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.

Barone C, Bianca S, Luciano D, Di Benedetto D, Vinci M, Fichera M. Barone C, et al. Among authors: di benedetto d. Am J Med Genet A. 2013 Jun;161A(6):1381-5. doi: 10.1002/ajmg.a.35860. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613341

6

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. Alberti A, et al. Among authors: di benedetto d. Clin Genet. 2007 Feb;71(2):177-82. doi: 10.1111/j.1399-0004.2007.00750.x. Clin Genet. 2007. PMID: 17250668

7

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O. Giorda R, et al. Among authors: di benedetto d. Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716111 Free PMC article.

8

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

Lo Giudice M, Neri M, Falco M, Sturnio M, Calzolari E, Di Benedetto D, Fichera M. Lo Giudice M, et al. Among authors: di benedetto d. Arch Neurol. 2006 Feb;63(2):284-7. doi: 10.1001/archneur.63.2.284. Arch Neurol. 2006. PMID: 16476820

9

Quantitative evaluation of partial deletions of the DAZ gene cluster.

D'Amico GL, Di Benedetto D, Pezzino FM, Giuffrida V, Libra M, Fichera M, Mauceri G, Rappazzo G, D'Agata R, Vicari E, Travali S, Calogero AE. D'Amico GL, et al. Among authors: d agata r, di benedetto d. Int J Mol Med. 2006 May;17(5):785-9. Int J Mol Med. 2006. PMID: 16596261

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. Among authors: di benedetto d, di blasi fd. 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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