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Your search keyword '"Brussino, Alessandro"' showing total 4 results
Start Over Author "Brussino, Alessandro" Journal the journal of molecular diagnostics
4 results on '"Brussino, Alessandro"'

3. Spinocerebellar Ataxia Tethering PCR

Author

Cagnoli, Claudia, primary, Brussino, Alessandro, additional, Mancini, Cecilia, additional, Ferrone, Marina, additional, Orsi, Laura, additional, Salmin, Paola, additional, Pappi, Patrizia, additional, Giorgio, Elisa, additional, Pozzi, Elisa, additional, Cavalieri, Simona, additional, Di Gregorio, Eleonora, additional, Ferrero, Marta, additional, Filla, Alessandro, additional, De Michele, Giuseppe, additional, Gellera, Cinzia, additional, Mariotti, Caterina, additional, Nethisinghe, Suran, additional, Giunti, Paola, additional, Stevanin, Giovanni, additional, and Brusco, Alfredo, additional

Published
2018
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4. Large Pathogenic Expansions in the SCA2and SCA7Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay

Author

Cagnoli, Claudia, Stevanin, Giovanni, Michielotto, Chiara, Gerbino Promis, Giovanni, Brussino, Alessandro, Pappi, Patrizia, Durr, Alexandra, Dragone, Elisa, Viemont, Michelle, Gellera, Cinzia, Brice, Alexis, Migone, Nicola, and Brusco, Alfredo

Abstract

Large expansions in the SCA2and SCA7genes (100 CAG repeats) have been associated with juvenile and infantile forms of cerebellar ataxias that cannot be detected using standard polymerase chain reaction (PCR). Here, we describe a successful application of the fluorescent short tandem repeat-primed PCR method for accurate identification of these expanded repeats. The test is robust, reliable, and inexpensive and can be used to screen large series of patients, although it cannot give a precise evaluation of the size of the expansion. This test may be of practical value in prenatal diagnoses offered to affected or pre-symptomatic at-risk parents, in which a very large expansion inherited from one of the parents can be missed in the fetus by standard PCR.

Published
2006
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