Fichera M - Search Results

1

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.

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

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

4

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. 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.

5

Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias.

Guida V, Colosimo A, Fiorito M, Foglietta E, Bianco I, Ivaldi G, Fichera M, Dallapiccola B. Guida V, et al. Among authors: fichera m. Clin Chem. 2004 Jul;50(7):1242-5. doi: 10.1373/clinchem.2004.032664. Clin Chem. 2004. PMID: 15229155 No abstract available.

6

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.

Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M. Fichera M, et al. Neurology. 2004 Sep 28;63(6):1108-10. doi: 10.1212/01.wnl.0000138731.60693.d2. Neurology. 2004. PMID: 15452312 Review.

7

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

8

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

Fichera M, Falco M, Lo Giudice M, Castiglia L, Guarnaccia V, Calì F, Spalletta A, Scuderi C, Avola E. Fichera M, et al. Clin Genet. 2005 May;67(5):446-7. doi: 10.1111/j.1399-0004.2005.00436.x. Clin Genet. 2005. PMID: 15811016 No abstract available.

9

Denaturing HPLC-based assay for detection of ATRX gene mutations.

Falco M, Luciano D, Sturnio M, Spalletta A, Scionti D, Lo Giudice M, Romano C, Fichera M. Falco M, et al. Among authors: fichera m. Clin Chem. 2005 Jul;51(7):1314-5. doi: 10.1373/clinchem.2005.052407. Clin Chem. 2005. PMID: 15976132 No abstract available.

10

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

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