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Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, Nicolazzi MA, Musumeci A, Penco S, Buscemi L, Crivelli S, Danesino C, Clementi M, Calzavara-Pinton P, Viglio S, Valli M, Barlati S, Colombi M. Drera B, et al. Among authors: penco s. J Dermatol Sci. 2011 Dec;64(3):237-40. doi: 10.1016/j.jdermsci.2011.09.002. Epub 2011 Sep 24. J Dermatol Sci. 2011. PMID: 22019127 No abstract available.
Detection of the first OCA6 Italian patient in a large cohort of albino subjects.
Veniani E, Mauri L, Manfredini E, Gesu GP, Patrosso MC, Zelante L, D'Agruma L, Del Longo A, Mazza M, Piozzi E, Penco S, Primignani P. Veniani E, et al. Among authors: penco s. J Dermatol Sci. 2016 Mar;81(3):208-9. doi: 10.1016/j.jdermsci.2015.11.012. Epub 2015 Nov 28. J Dermatol Sci. 2016. PMID: 26686029 No abstract available.
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Mauri L, Manfredini E, Del Longo A, Veniani E, Scarcello M, Terrana R, Radaelli AE, Calò D, Mingoia G, Rossetti A, Marsico G, Mazza M, Gesu GP, Cristina Patrosso M, Penco S, Piozzi E, Primignani P. Mauri L, et al. Among authors: penco s. J Hum Genet. 2017 Feb;62(2):277-290. doi: 10.1038/jhg.2016.123. Epub 2016 Oct 13. J Hum Genet. 2017. PMID: 27734839
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, Modugno A, Grammatico P, Patrosso MC, Piozzi E, Del Longo A, Gesu GP, Manfredini E, Primignani P, Damante G, Penco S. Mauri L, et al. Among authors: penco s. Eur J Med Genet. 2015 Feb;58(2):66-70. doi: 10.1016/j.ejmg.2014.12.005. Epub 2014 Dec 23. Eur J Med Genet. 2015. PMID: 25542770
237 results