Guida V - Search Results

1

JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.

Digilio MC, Luca AD, Lepri F, Guida V, Ferese R, Dentici ML, Angioni A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: guida v. Am J Med Genet A. 2013 Dec;161A(12):3133-6. doi: 10.1002/ajmg.a.36148. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956173

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

Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay.

Migliosi V, Flex E, Guida V, Martini A, Giarbini N, Markova T, Torrente I, Dallapiccola B. Migliosi V, et al. Among authors: guida v. Clin Genet. 2004 Nov;66(5):478-80. doi: 10.1111/j.1399-0004.2004.00318.x. Clin Genet. 2004. PMID: 15479196 No abstract available.

9

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.

10

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

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