What is Magi?

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MAGI is concerned with research and diagnosis of rare genetic diseases. It has been operating since 2006 in Italy and abroad. Today it has three centers in Italy, including a medical genetics laboratory specialized in next generation sequencing in Bolzano, a medical genetics laboratory specialized in MLPA in Rovereto (Trento) and a genetic diseases information center at San Felice del Benaco (Brescia). MAGI has also invested outside Italy, setting up non-profit genetics laboratories in countries such as Albania, Russia and in the near future, Kazakhstan.

1. Maltese PE, Poplavskaia E, Malyutkina I, Sirocco F, Bonizzato A, Capodicasa N, Nicoulina SY, Salmina A, Aksutina N, Dundar M, Beccari T, Cecchin S, Bertelli M. Genetic tests for low- and middle- income countries: a literature review. Genet Mol Res. 2017 Feb 8;16(1). doi:

2. Said EL, Cécile M, Matteo B, Angélique T, Christelle M, Christel C, Stéphane F, Maxime S, Emmanuelle C, Binqian L, Thierry L, Olivier L, José-Alain S, Isabelle A, Christina Z. Further insights into the ciliary gene and protein KIZ and its murine ortholog PLK1S1 mutant in rod-cone dystrophy. Genes 2017, 8(10), 277; doi:

3. Abed E, Placidi G, Campagna F, Federici M, Minnella A, Guerri G, Bertelli M, Piccardi M, Galli-Resta L, Falsini B. Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene. Clin Exp Ophthalmol. 2017 Nov 25. doi:

4. Colombo L, Sala B, Montesano G, Pierrottet C, De Cillà S, Maltese P, Bertelli M, Rossetti L. Choroidal thickness analysis in patients with Usher Syndrome Type 2 using EDI OCT. J Ophthalmol. 2015;2015:189140. PMID: 26075083.

5. Michelini S, Vettori A, Maltese PE, Cardone M, Bruson A, Fiorentino A, Cappellino F, Sainato V, Guerri G, Marceddu G, Tezzele S, Bertelli M. Genetic screening in a large cohort of Italian patients affected by primary lymphedema using a next generation sequencing (NGS) approach. Lymphology 2016:49(3):165-165.

6. Tavian D, Missaglia S, Maltese PE, Michelini S, Fiorentino A, Ricci M, Serrani R, Walter MA, Bertelli M. FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function. Oncotarget. 2016 Jun 2. doi:

7. Mattassi R, Manara E, Colombo PG, Manara S, Porcella A, Bruno G, Bruson A, Bertelli M. Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.J Vasc Surg. 2017 Jun 24.pii: S0741-5214(17)30909-6. doi:

8. Marku E, Maltese PE, Koni M, Capodicasa N, Qendro IS, Rigoni E, Cecchin S, Bertelli M. Polymorphism of UGT1A1*28 (TA)7 and liver damage in hepatitis B virus-positive patients in Albania. Genet Mol Res. 2015 May 18;14(2):5221-8. PMID: 26125716 Free Article

9. Mordovskii V, Semenchukov A, Nikulina SY, Salmina AB, Chernova A, Kapustina E, Kents A, Ohapkina A, Moskaleva E, Maltese PE, Convertini P, Bertelli M. TNFR1 -383 A˃C polymorphism and ankylosing spondylitis in a Russian Caucasian population: a preliminary study. Genet Mol Res. 2017 Mar 30;16(1). doi:

10. Maltese PE, Venturini L, Poplavskaya E, Bertelli M, Cecchin S, Granato M, Nikulina SY, Salmina A, Aksyutina N, Capelli E, Ricevuti G, Lorusso L. Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome. Genet Mol Res. 2016 Jul 29;15(3). doi:

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