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The EuroBiotech Journal
MAGI group activity - Research, diagnosis and treatment of genetic and rare diseases

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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: 10.4238/gmr16019466. PMID: 28198508.Search in Google Scholar

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:10.3390/genes8100277.Search in Google Scholar

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: 10.1111/ceo.13115. [Epub ahead of print] PMID: 29178665.Search in Google Scholar

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: 26075083.10.1155/2015/189140444993426075083Search in Google Scholar

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.Search in Google Scholar

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: 10.18632/oncotarget. 9797. [Epub ahead of print] PMID: 27276711Search in Google Scholar

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: 10.1016/j.jvs.2017.02.034. [Epub ahead of print] PubMed PMID: 28655553.Search in Google Scholar

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 Article10.4238/2015.May.18.1326125716Search in Google Scholar

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: 10.4238/gmr16019581. PMID: 28363009.Search in Google Scholar

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: 10.4238/gmr.15038717. ID: 7525900.Search in Google Scholar

eISSN:
2564-615X
Language:
English
Publication timeframe:
4 times per year
Journal Subjects:
Life Sciences, other, Medicine, Biomedical Engineering, Physics, Nanotechnology, Biophysics