Bertelli M - Search Results

1

PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics.

Marceddu G, Dallavilla T, Guerri G, Manara E, Chiurazzi P, Bertelli M. Marceddu G, et al. Among authors: bertelli m. Eur Rev Med Pharmacol Sci. 2019 Aug;23(15):6753-6765. doi: 10.26355/eurrev_201908_18566. Eur Rev Med Pharmacol Sci. 2019. PMID: 31378919 Free article.

2

Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.

Maltese PE, Orlova N, Krasikova E, Emelyanchik E, Cheremisina A, Kuscaeva A, Salmina A, Miotto R, Bonizzato A, Guerri G, Zuntini M, Nicoulina S, Bertelli M. Maltese PE, et al. Among authors: bertelli m. Int Heart J. 2017 Feb 7;58(1):81-87. doi: 10.1536/ihj.16-133. Epub 2016 Dec 21. Int Heart J. 2017. PMID: 28003625 Free article.

3

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.

Mattassi R, Manara E, Colombo PG, Manara S, Porcella A, Bruno G, Bruson A, Bertelli M. Mattassi R, et al. Among authors: bertelli m. J Vasc Surg. 2018 Mar;67(3):922-932.e11. doi: 10.1016/j.jvs.2017.02.034. Epub 2017 Jun 24. J Vasc Surg. 2018. PMID: 28655553 Free article.

4

A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

Maltese PE, Iarossi G, Ziccardi L, Colombo L, Buzzonetti L, Crinò A, Tezzele S, Bertelli M. Maltese PE, et al. Among authors: bertelli m. Eur J Med Genet. 2018 Feb;61(2):79-83. doi: 10.1016/j.ejmg.2017.10.016. Epub 2017 Oct 24. Eur J Med Genet. 2018. PMID: 29079548

5

Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene.

Abed E, Placidi G, Campagna F, Federici M, Minnella A, Guerri G, Bertelli M, Piccardi M, Galli-Resta L, Falsini B. Abed E, et al. Among authors: bertelli m. Clin Exp Ophthalmol. 2018 Jul;46(5):519-530. doi: 10.1111/ceo.13115. Epub 2017 Dec 28. Clin Exp Ophthalmol. 2018. PMID: 29178665

6

Genetic tests in lymphatic vascular malformations and lymphedema.

Michelini S, Paolacci S, Manara E, Eretta C, Mattassi R, Lee BB, Bertelli M. Michelini S, et al. Among authors: bertelli m. J Med Genet. 2018 Apr;55(4):222-232. doi: 10.1136/jmedgenet-2017-105064. Epub 2018 Feb 9. J Med Genet. 2018. PMID: 29440349

7

Genetic Screening in a Large Cohort of Italian Patients Affected by Primary Lymphedema Using a Next Generation Sequencing (NGS) Approach.

Michelini S, Vettori A, Maltese PE, Cardone M, Bruson A, Fiorentino A, Cappellino F, Sainato V, Guerri G, Marceddu G, Tezzele S, Bertelli M. Michelini S, et al. Among authors: bertelli m. Lymphology. 2016 Jun;49(2):57-72. Lymphology. 2016. PMID: 29906362

8

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.

Marino V, Dal Cortivo G, Oppici E, Maltese PE, D'Esposito F, Manara E, Ziccardi L, Falsini B, Magli A, Bertelli M, Dell'Orco D. Marino V, et al. Among authors: bertelli m. Hum Mol Genet. 2018 Dec 15;27(24):4204-4217. doi: 10.1093/hmg/ddy311. Hum Mol Genet. 2018. PMID: 30184081

9

Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature.

Noia G, Maltese PE, Zampino G, D'Errico M, Cammalleri V, Convertini P, Marceddu G, Mueller M, Guerri G, Bertelli M. Noia G, et al. Among authors: bertelli m. Lymphat Res Biol. 2019 Feb;17(1):30-39. doi: 10.1089/lrb.2017.0084. Epub 2018 Nov 22. Lymphat Res Biol. 2019. PMID: 30475086 Review.

10

Mendelian obesity, molecular pathways and pharmacological therapies: a review.

Paolacci S, Borrelli A, Stuppia L, Campanile FC, Dallavilla T, Krajčovič J, Veselenyiova D, Beccari T, Unfer V, Bertelli M; Geneob Project. Paolacci S, et al. Among authors: bertelli m. Eur Rev Med Pharmacol Sci. 2019 Feb;23(3):1357-1378. doi: 10.26355/eurrev_201902_17031. Eur Rev Med Pharmacol Sci. 2019. PMID: 30779104 Free article. Review.

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