Colosimo A - Search Results

1

Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma.

Torrente I, Arturi F, D'Aloiso L, Colosimo A, De Luca A, Ferretti E, Russo D, Chiefari E, Scarpelli D, Bisceglia M, Dallapiccola B, Filetti S. Torrente I, et al. Among authors: colosimo a. J Endocrinol Invest. 2004 Feb;27(2):111-6. doi: 10.1007/BF03346254. J Endocrinol Invest. 2004. PMID: 15129804

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. Hum Mutat. 2002 Mar;19(3):287-95. doi: 10.1002/humu.10046. Hum Mutat. 2002. PMID: 11857746

3

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. Hum Mutat. 2003 Jun;21(6):622-9. doi: 10.1002/humu.10215. Hum Mutat. 2003. PMID: 12754709

4

Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy.

Colosimo A, Guida V, Scolari A, De Luca A, Palka G, Rigoli L, Meo A, Salpietro DC, Dallapiccola B. Colosimo A, et al. Genet Test. 2003 Fall;7(3):269-75. doi: 10.1089/109065703322537322. Genet Test. 2003. PMID: 14642006

5

Use of DHPLC for rapid screening of recombinant clones.

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

6

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

7

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

Pigullo S, De Luca A, Barone P, Marchese R, Bellone E, Colosimo A, Scaglione C, Martinelli P, Di Maria E, Pizzuti A, Abbruzzese G, Dallapiccola B, Ajmar F, Mandich P. Pigullo S, et al. Among authors: colosimo a. Parkinsonism Relat Disord. 2004 Aug;10(6):357-62. doi: 10.1016/j.parkreldis.2004.04.012. Parkinsonism Relat Disord. 2004. PMID: 15261877

8

Detection of eight beta-thalassemia mutations using a DNA enzyme immunoassay.

Colosimo A, Novelli G, Cavicchini A, Dallapiccola B. Colosimo A, et al. Int J Clin Lab Res. 1996;26(2):136-9. doi: 10.1007/BF02592357. Int J Clin Lab Res. 1996. PMID: 8856368

9

Extrachromosomal genes: a powerful tool in gene targeting approaches.

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

10

Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome.

Fiorito M, Torrente I, De Cosmo S, Guida V, Colosimo A, Prudente S, Flex E, Menghini R, Miccoli R, Penno G, Pellegrini F, Tassi V, Federici M, Trischitta V, Dallapiccola B. Fiorito M, et al. Among authors: colosimo a. Obesity (Silver Spring). 2007 Dec;15(12):2889-95. doi: 10.1038/oby.2007.343. Obesity (Silver Spring). 2007. PMID: 18198294 Free article.

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