Bertelli M - Search Results

1

Non-syndromic monogenic male infertility.

Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Berardinis E, Cannarella R, Calogero AE, Bertelli M. Guerri G, et al. Among authors: bertelli m. Acta Biomed. 2019 Sep 30;90(10-S):62-67. doi: 10.23750/abm.v90i10-S.8762. Acta Biomed. 2019. PMID: 31577257 Free PMC article. Review.

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

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

4

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

5

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

6

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.

7

A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis.

Paolacci S, Faletra F, Maltese PE, Quadrifoglio M, Bertelli M. Paolacci S, et al. Among authors: bertelli m. Congenit Anom (Kyoto). 2019 Nov;59(6):197-198. doi: 10.1111/cga.12328. Epub 2019 Mar 5. Congenit Anom (Kyoto). 2019. PMID: 30767287 No abstract available.

8

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.

9

Vascular anomalies: molecular bases, genetic testing and therapeutic approaches.

Paolacci S, Zulian A, Bruson A, Manara E, Michelini S, Mattassi RE, Lee BB, Amato B, Bertelli M. Paolacci S, et al. Among authors: bertelli m. Int Angiol. 2019 Apr;38(2):157-170. doi: 10.23736/S0392-9590.19.04154-3. Epub 2019 Apr 1. Int Angiol. 2019. PMID: 30938497 Free article. Review.

10

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.

Manara E, Paolacci S, D'Esposito F, Abeshi A, Ziccardi L, Falsini B, Colombo L, Iarossi G, Pilotta A, Boccone L, Guerri G, Monica M, Marta B, Maltese PE, Buzzonetti L, Rossetti L, Bertelli M. Manara E, et al. Among authors: bertelli m. Ital J Pediatr. 2019 Jun 13;45(1):72. doi: 10.1186/s13052-019-0659-1. Ital J Pediatr. 2019. PMID: 31196119 Free PMC article.

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