Fichera M - Search Results

1

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: fichera m. 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.

2

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: fichera m. Hum Mutat. 2003 May;21(5):529-34. doi: 10.1002/humu.10183. Hum Mutat. 2003. PMID: 12673795

3

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: fichera m. 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.

4

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: fichera m. Epilepsia. 2006 May;47(5):830-8. doi: 10.1111/j.1528-1167.2006.00522.x. Epilepsia. 2006. PMID: 16686647 Free article.

5

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: fichera m. 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.

6

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: fichera m. 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

7

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O. Bonaglia MC, et al. Among authors: fichera m. PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14. PLoS Genet. 2011. PMID: 21779178 Free PMC article.

8

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.

Concolino D, Iembo MA, Moricca MT, Rapsomaniki M, Marotta R, Galesi O, Fichera M, Romano C, Strisciuglio P. Concolino D, et al. Among authors: fichera m. Eur J Med Genet. 2012 Jan;55(1):67-70. doi: 10.1016/j.ejmg.2011.09.001. Epub 2011 Sep 25. Eur J Med Genet. 2012. PMID: 21971480

9

Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome.

Mazzone L, Vassena L, Ruta L, Mugno D, Galesi O, Fichera M. Mazzone L, et al. Among authors: fichera m. J Autism Dev Disord. 2012 Oct;42(10):2202-7. doi: 10.1007/s10803-011-1432-5. J Autism Dev Disord. 2012. PMID: 22222775

10

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.

Piccione M, Sanfilippo C, Cavani S, Salatiello P, Malacarne M, Pierluigi M, Fichera M, Luciano D, Corsello G. Piccione M, et al. Among authors: fichera m. J Genet. 2011 Dec;90(3):473-7. doi: 10.1007/s12041-011-0096-4. J Genet. 2011. PMID: 22227935 No abstract available.

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