Leccese A - Search Results

1

Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.

Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M. Trunzo R, et al. Among authors: leccese a. Clin Biochem. 2014 Feb;47(3):233-5. doi: 10.1016/j.clinbiochem.2013.11.015. Epub 2013 Dec 1. Clin Biochem. 2014. PMID: 24296287

2

Mutation analysis in hyperphenylalaninemia patients from South Italy.

Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M. Trunzo R, et al. Among authors: leccese a. Clin Biochem. 2013 Dec;46(18):1896-8. doi: 10.1016/j.clinbiochem.2013.06.009. Epub 2013 Jun 18. Clin Biochem. 2013. PMID: 23792259

3

Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.

Leccese A, Longo V, Dimatteo C, De Girolamo G, Trunzo R, D'Andrea G, Bafunno V, Margaglione M, Santacroce R. Leccese A, et al. Clin Chim Acta. 2014 Nov 1;437:48-51. doi: 10.1016/j.cca.2014.07.009. Epub 2014 Jul 12. Clin Chim Acta. 2014. PMID: 25025300

4

Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.

Santacroce R, Leccese A, Trunzo R, Lassandro G, Giordano P, Ettorre C, Antoncecchi S, Cantori I, Dragani A, Belvini D, Salviato R, Margaglione M. Santacroce R, et al. Among authors: leccese a. Thromb Res. 2015 May;135(5):1031-4. doi: 10.1016/j.thromres.2015.01.019. Epub 2015 Jan 17. Thromb Res. 2015. PMID: 25628142 No abstract available.

5

Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.

Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Bafunno V, Lillo V, Papadia F, Margaglione M. Trunzo R, et al. Among authors: leccese a. Clin Chim Acta. 2015 Oct 23;450:51-5. doi: 10.1016/j.cca.2015.07.014. Epub 2015 Jul 23. Clin Chim Acta. 2015. PMID: 26210745

6

The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype.

Santacroce R, Trunzo R, Leccese A, Pansini A, Gentile M, Margaglione M. Santacroce R, et al. Among authors: leccese a. Syst Biol Reprod Med. 2015;61(6):398-402. doi: 10.3109/19396368.2015.1067936. Epub 2015 Aug 13. Syst Biol Reprod Med. 2015. PMID: 26270802

7

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

Trunzo R, Santacroce R, Shen N, Jung-Klawitter S, Leccese A, De Girolamo G, Margaglione M, Blau N. Trunzo R, et al. Among authors: leccese a. Gene. 2016 Dec 5;594(1):138-143. doi: 10.1016/j.gene.2016.09.015. Epub 2016 Sep 13. Gene. 2016. PMID: 27620137

8

Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema.

Bafunno V, Firinu D, D'Apolito M, Cordisco G, Loffredo S, Leccese A, Bova M, Barca MP, Santacroce R, Cicardi M, Del Giacco S, Margaglione M. Bafunno V, et al. Among authors: leccese a. J Allergy Clin Immunol. 2018 Mar;141(3):1009-1017. doi: 10.1016/j.jaci.2017.05.020. Epub 2017 Jun 8. J Allergy Clin Immunol. 2018. PMID: 28601681 Clinical Trial.

9

A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.

Carpagnano GE, Santacroce R, Palmiotti GA, Leccese A, Giuffreda E, Margaglione M, Foschino Barbaro MP, Aliberti S, Lacedonia D. Carpagnano GE, et al. Among authors: leccese a. Lung. 2017 Oct;195(5):679-682. doi: 10.1007/s00408-017-0033-2. Epub 2017 Jul 1. Lung. 2017. PMID: 28668972

10

Double de novo mutations in dilated cardiomyopathy with cardiac arrest.

Monaco I, Santacroce R, Casavecchia G, Correale M, Bottigliero D, Cordisco G, Leccese A, Di Biase M, Margaglione M, Brunetti ND. Monaco I, et al. Among authors: leccese a. J Electrocardiol. 2019 Mar-Apr;53:40-43. doi: 10.1016/j.jelectrocard.2018.12.015. Epub 2018 Dec 21. J Electrocardiol. 2019. PMID: 30611920

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