Amata S - Search Results

1

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. Among authors: amata s. Neurology. 2004 Sep 28;63(6):1108-10. doi: 10.1212/01.wnl.0000138731.60693.d2. Neurology. 2004. PMID: 15452312 Review.

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. Among authors: amata s. Hum Mutat. 1998;12(3):214. Hum Mutat. 1998. PMID: 10660327

3

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. Among authors: amata s. 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.

4

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: amata s. Clin Chem. 2005 Dec;51(12):2356-8. doi: 10.1373/clinchem.2005.056036. Clin Chem. 2005. PMID: 16306095 No abstract available.

5

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.

Grillo L, Reitano S, Belfiore G, Spalletta A, Amata S, Bottitta M, Barone C, Falco M, Fichera M, Romano C. Grillo L, et al. Among authors: amata s. Eur J Med Genet. 2010 Mar-Apr;53(2):113-6. doi: 10.1016/j.ejmg.2010.01.001. Epub 2010 Jan 21. Eur J Med Genet. 2010. PMID: 20096387

6

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: amata s. Gene. 2014 Jan 25;534(2):435-9. doi: 10.1016/j.gene.2013.09.120. Epub 2013 Oct 8. Gene. 2014. PMID: 24120895

7

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response.

Fichera M, Barone R, Grillo L, De Grandi M, Fiore V, Morana I, Maniscalchi T, Vinci M, Amata S, Spalletta A, Sorge G, Signorelli SS. Fichera M, et al. Among authors: amata s. Mol Cytogenet. 2014 Dec 19;7(1):90. doi: 10.1186/s13039-014-0090-7. eCollection 2014. Mol Cytogenet. 2014. PMID: 25540671 Free PMC article.

8

Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.

Miceli M, Failla P, Saccuzzo L, Galesi O, Amata S, Romano C, Bonaglia MC, Fichera M. Miceli M, et al. Among authors: amata s. Genes Genomics. 2023 Apr;45(4):491-505. doi: 10.1007/s13258-023-01369-7. Epub 2023 Feb 20. Genes Genomics. 2023. PMID: 36807877 Free PMC article.

9

Genetic variations in human fetal globin gene microsatellites and their functional relevance.

Lapoumeroulie C, Castiglia L, Ruberto C, Fichera M, Amata S, Labie D, Ragusa A. Lapoumeroulie C, et al. Among authors: amata s. Hum Genet. 1999 Apr;104(4):307-14. doi: 10.1007/s004390050959. Hum Genet. 1999. PMID: 10369160

10

Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G-->A mutation: role of the beta-globin gene haplotype.

Ragusa A, Amata S, Lombardo T, Castiglia L, Maier-Redelsperger M, Labie D, Bernini L. Ragusa A, et al. Among authors: amata s. Haematologica. 2003 Oct;88(10):1099-105. Haematologica. 2003. PMID: 14555304

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