Spalletta A - 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: spalletta a. 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

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

3

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: spalletta a. 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.

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. Among authors: spalletta a. Prenat Diagn. 2001 Sep;21(9):747-51. doi: 10.1002/pd.142. Prenat Diagn. 2001. PMID: 11559911

5

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

6

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: spalletta a. 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

7

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

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. Among authors: spalletta a. 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

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M. Elia M, et al. Among authors: spalletta a. Neurology. 2008 Sep 23;71(13):997-9. doi: 10.1212/01.wnl.0000326592.37105.88. Neurology. 2008. PMID: 18809835

10

Molecular basis of alpha-thalassemia in Sicily.

Fichera M, Spalletta A, Fiorenza F, Lombardo T, Schilirò G, Tamouza R, Lapouméroulie C, Labie D, Ragusa A. Fichera M, et al. Among authors: spalletta a. Hum Genet. 1997 Mar;99(3):381-6. doi: 10.1007/s004390050376. Hum Genet. 1997. PMID: 9050927

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