Guida V - Search Results

1

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Guida V, Sparascio FP, Bernardini L, Pancheri F, Melis D, Cocciadiferro D, Pagnoni M, Puzzo M, Goldoni M, Barone C, Hozhabri H, Putotto C, Giuffrida MG, Briuglia S, Palumbo O, Bianca S, Stanzial F, Benedicenti F, Kariminejad A, Forzano F, Baghernajad Salehi L, Mattina T, Brancati F, Castori M, Carella M, Fadda MT, Iannetti G, Dallapiccola B, Digilio MC, Marino B, Tartaglia M, De Luca A. Guida V, et al. Clin Genet. 2021 Sep;100(3):268-279. doi: 10.1111/cge.13994. Epub 2021 May 24. Clin Genet. 2021. PMID: 33988253

2

Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.

Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, Dallapiccola B. Colosimo A, et al. Among authors: guida v. Hum Mutat. 2002 Mar;19(3):287-95. doi: 10.1002/humu.10046. Hum Mutat. 2002. PMID: 11857746

3

Extrachromosomal genes: a powerful tool in gene targeting approaches.

Colosimo A, Guida V, Palka G, Dallapiccola B. Colosimo A, et al. Among authors: guida v. Gene Ther. 2002 Jun;9(11):679-82. doi: 10.1038/sj.gt.3301749. Gene Ther. 2002. PMID: 12032686

4

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.

Pizzuti A, Calabrese G, Bozzali M, Telvi L, Morizio E, Guida V, Gatta V, Stuppia L, Ion A, Palka G, Dallapiccola B. Pizzuti A, et al. Among authors: guida v. Invest Ophthalmol Vis Sci. 2002 Dec;43(12):3609-12. Invest Ophthalmol Vis Sci. 2002. PMID: 12454025

5

Use of DHPLC for rapid screening of recombinant clones.

Colosimo A, Guida V, Flex E, Conti E, Dallapiccola B. Colosimo A, et al. Among authors: guida v. Biotechniques. 2003 Apr;34(4):706-8. doi: 10.2144/03344bm04. Biotechniques. 2003. PMID: 12703292 Free article. No abstract available.

6

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.

Colosimo A, Guida V, Rigoli L, Di Bella C, De Luca A, Briuglia S, Stuppia L, Salpietro DC, Dallapiccola B. Colosimo A, et al. Among authors: guida v. Hum Mutat. 2003 Jun;21(6):622-9. doi: 10.1002/humu.10215. Hum Mutat. 2003. PMID: 12754709

7

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. Clin Chem. 2004 Jul;50(7):1242-5. doi: 10.1373/clinchem.2004.032664. Clin Chem. 2004. PMID: 15229155 No abstract available.

8

Functional analysis of splicing mutations in exon 7 of NF1 gene.

Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B. Bottillo I, et al. Among authors: guida v. BMC Med Genet. 2007 Feb 12;8:4. doi: 10.1186/1471-2350-8-4. BMC Med Genet. 2007. PMID: 17295913 Free PMC article.

9

Familial transposition of the great arteries caused by multiple mutations in laterality genes.

De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML, Mingarelli R, Bellacchio E, Tuo G, Limongelli G, Digilio MC, Marino B, Dallapiccola B. De Luca A, et al. Among authors: guida v. Heart. 2010 May;96(9):673-7. doi: 10.1136/hrt.2009.181685. Epub 2009 Nov 20. Heart. 2010. PMID: 19933292

10

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.

Guida V, Lepri F, Vijzelaar R, De Zorzi A, Versacci P, Digilio MC, Marino B, De Luca A, Dallapiccola B. Guida V, et al. Dis Markers. 2010;28(5):287-92. doi: 10.3233/DMA-2010-0703. Dis Markers. 2010. PMID: 20592452 Free PMC article.

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