Bisceglia L - Search Results

1

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L. Bisceglia L, et al. Invest Ophthalmol Vis Sci. 2005 Jan;46(1):39-45. doi: 10.1167/iovs.04-0533. Invest Ophthalmol Vis Sci. 2005. PMID: 15623752

2

Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci.

Bisceglia L, De Bonis P, Pizzicoli C, Fischetti L, Laborante A, Di Perna M, Giuliani F, Delle Noci N, Buzzonetti L, Zelante L. Bisceglia L, et al. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1081-6. doi: 10.1167/iovs.08-2382. Epub 2008 Oct 31. Invest Ophthalmol Vis Sci. 2009. PMID: 18978346

3

Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, Mazzilli E, Zelante L, Bisceglia L. De Bonis P, et al. Among authors: bisceglia l. Mol Vis. 2011;17:2482-94. Epub 2011 Sep 24. Mol Vis. 2011. PMID: 21976959 Free PMC article.

4

Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.

Aucella F, De Bonis P, Gatta G, Muscarella LA, Vigilante M, di Giorgio G, D'Errico M, Zelante L, Stallone C, Bisceglia L. Aucella F, et al. Among authors: bisceglia l. Nephron Clin Pract. 2005;99(2):c31-6. doi: 10.1159/000082864. Epub 2004 Dec 21. Nephron Clin Pract. 2005. PMID: 15627790

5

Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms.

Stanziale P, Savino M, De Bonis P, Granatiero M, Zelante L, Bisceglia L. Stanziale P, et al. Among authors: bisceglia l. Genet Test. 2005 Winter;9(4):285-91. doi: 10.1089/gte.2005.9.285. Genet Test. 2005. PMID: 16379540

6

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P, Zelante L, Bisceglia L. Melchionda S, et al. Among authors: bisceglia l. J Hum Genet. 2016 Sep;61(9):811-21. doi: 10.1038/jhg.2016.58. Epub 2016 May 26. J Hum Genet. 2016. PMID: 27225849

7

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L. Ciavarella M, et al. Among authors: bisceglia l. Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20. Gene. 2013. PMID: 23262345

8

Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene.

Laborante A, Longo C, De Bonis P, Bisceglia L. Laborante A, et al. Among authors: bisceglia l. Clin Ter. 2013;164(1):e41-3. doi: 10.7417/CT.2013.1520. Clin Ter. 2013. PMID: 23455751

9

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L. Bisceglia L, et al. Mol Genet Metab. 2010 Jan;99(1):42-52. doi: 10.1016/j.ymgme.2009.09.001. Mol Genet Metab. 2010. PMID: 19782624

10

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, Palumbo O, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):208. Hum Genet. 2007. PMID: 18386345 No abstract available.

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