Galesi O - Search Results

1

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. Among authors: galesi o. 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

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. Among authors: galesi o. 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

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. Among authors: galesi o. Hum Mutat. 2003 May;21(5):529-34. doi: 10.1002/humu.10183. Hum Mutat. 2003. PMID: 12673795

4

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

Castiglia L, Fichera M, Romano C, Galesi O, Grillo L, Sturnio M, Failla P. Castiglia L, et al. Among authors: galesi o. Am J Hum Genet. 2005 Nov;77(5):892-4; author reply 894-5. doi: 10.1086/497082. Am J Hum Genet. 2005. PMID: 16252246 Free PMC article. No abstract available.

5

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.

Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F. Elia M, et al. Among authors: galesi o. Epilepsia. 2006 May;47(5):830-8. doi: 10.1111/j.1528-1167.2006.00522.x. Epilepsia. 2006. PMID: 16686647 Free article.

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: galesi o. Clin Genet. 2007 Feb;71(2):177-82. doi: 10.1111/j.1399-0004.2007.00750.x. Clin Genet. 2007. PMID: 17250668

7

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q.

Failla P, Romano C, Alberti A, Vasta A, Buono S, Castiglia L, Luciano D, Di Benedetto D, Fichera M, Galesi O. Failla P, et al. Among authors: galesi o. Clin Genet. 2007 Jun;71(6):599-601. doi: 10.1111/j.1399-0004.2007.00819.x. Clin Genet. 2007. PMID: 17539913 No abstract available.

8

Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.

Bartocci A, Striano P, Mancardi MM, Fichera M, Castiglia L, Galesi O, Michelucci R, Elia M. Bartocci A, et al. Among authors: galesi o. Brain Dev. 2008 Jun;30(6):425-9. doi: 10.1016/j.braindev.2007.11.004. Epub 2007 Dec 31. Brain Dev. 2008. PMID: 18166284

9

Three new patients with dup(17)(p11.2p11.2) without autism.

Greco D, Romano C, Reitano S, Barone C, Benedetto DD, Castiglia L, Fichera M, Galesi O, Zingale M, Buono S, Uliana V, Caselli R, Canitano R, Hayek G, Renieri A. Greco D, et al. Among authors: galesi o. Clin Genet. 2008 Mar;73(3):294-6. doi: 10.1111/j.1399-0004.2007.00959.x. Epub 2008 Jan 23. Clin Genet. 2008. PMID: 18218042 No abstract available.

10

Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation.

Grosso S, Fichera M, Galesi O, Luciano D, Pucci L, Giardini F, Berardi R, Balestri P. Grosso S, et al. Among authors: galesi o. Dev Med Child Neurol. 2008 Jun;50(6):473-6. doi: 10.1111/j.1469-8749.2008.02058.x. Epub 2008 Apr 1. Dev Med Child Neurol. 2008. PMID: 18384621 Free article.

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