Colosimo A - Search Results

1

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

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

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.

5

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

6

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.

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

Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers.

Guida V, Colosimo A, Fichera M, Lombardo T, Rigoli L, Dallapiccola B. Guida V, et al. Among authors: colosimo a. Haematologica. 2006 Mar;91(3):409-10. Epub 2006 Feb 17. Haematologica. 2006. PMID: 16503552

9

Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects.

Guida V, Cappabianca MP, Colosimo A, Rafanelli F, Amato A, Dallapiccola B. Guida V, et al. Among authors: colosimo a. Haematologica. 2006 Sep;91(9):1275-6. Haematologica. 2006. PMID: 16956833

10

Sequence-specific modification of a beta-thalassemia locus by small DNA fragments in human erythroid progenitor cells.

Colosimo A, Guida V, Antonucci I, Bonfini T, Stuppia L, Dallapiccola B. Colosimo A, et al. Haematologica. 2007 Jan;92(1):129-30. doi: 10.3324/haematol.10560. Haematologica. 2007. PMID: 17229648 Free article.

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