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Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Gatticchi L, Vešelényiová D, Miertus J, Enrico Maltese P, Manara E, Costantini A, Benedetti S, Ďurovčíková D, Krajcovic J, Bertelli M. Gatticchi L, et al. Among authors: bertelli m. Mol Genet Genomic Med. 2021 Apr;9(4):e1630. doi: 10.1002/mgg3.1630. Epub 2021 Mar 16. Mol Genet Genomic Med. 2021. PMID: 33724725 Free PMC article.
Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.
Nicoletti A, Ziccardi L, Maltese PE, Benedetti S, Palumbo O, Rendina M, D'Agruma L, Falsini B, Wang X, Bertelli M. Nicoletti A, et al. Among authors: bertelli m. Genet Test Mol Biomarkers. 2017 Feb;21(2):116-121. doi: 10.1089/gtmb.2016.0257. Epub 2016 Dec 20. Genet Test Mol Biomarkers. 2017. PMID: 27997221 Free PMC article.
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier.
Maltese P, Ziccardi L, Iarossi G, Gusson E, D'Agruma L, Marchini G, Buzzonetti L, Nicoletti A, Benedetti S, Bertelli M. Maltese P, et al. Among authors: bertelli m. Ophthalmic Genet. 2017 Sep-Oct;38(5):473-479. doi: 10.1080/13816810.2016.1253107. Epub 2017 Feb 1. Ophthalmic Genet. 2017. PMID: 28145787
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
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
397 results