Fichera M - 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: fichera m. Mol Cytogenet. 2013 Jan 17;6(1):4. doi: 10.1186/1755-8166-6-4. Mol Cytogenet. 2013. PMID: 23324214 Free PMC article.

2

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

Fichera M, Romano C, Castiglia L, Failla P, Ruberto C, Amata S, Greco D, Cardoso C, Fontés M, Ragusa A. Fichera M, et al. Hum Mutat. 1998;12(3):214. Hum Mutat. 1998. PMID: 10660327

3

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: fichera m. 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.

4

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.

Fichera M, Silengo M, Spalletta A, Giudice ML, Romano C, Ragusa A. Fichera M, et al. Prenat Diagn. 2001 Sep;21(9):747-51. doi: 10.1002/pd.142. Prenat Diagn. 2001. PMID: 11559911

5

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

6

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.

Falco M, Scuderi C, Musumeci S, Sturnio M, Neri M, Bigoni S, Caniatti L, Fichera M. Falco M, et al. Among authors: fichera m. Neuromuscul Disord. 2004 Nov;14(11):750-3. doi: 10.1016/j.nmd.2004.05.017. Neuromuscul Disord. 2004. PMID: 15482961

7

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.

8

Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.

Falco M, Romano C, Alberti A, Greco D, Scuderi C, Avola E, Failla P, Belli S, Tolmie JL, Amata S, Fichera M. Falco M, et al. Among authors: fichera m. Clin Chem. 2005 Dec;51(12):2356-8. doi: 10.1373/clinchem.2005.056036. Clin Chem. 2005. PMID: 16306095 No abstract available.

9

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: fichera m. Arch Neurol. 2006 Feb;63(2):284-7. doi: 10.1001/archneur.63.2.284. Arch Neurol. 2006. PMID: 16476820

10

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: fichera m. Int J Mol Med. 2006 May;17(5):785-9. Int J Mol Med. 2006. PMID: 16596261

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