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Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera De Benito D, Nascimiento Osorio A, Estévez Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B, Savarese M. Di Feo MF, et al. Among authors: pezzani l. Ann Clin Transl Neurol. 2024 Oct;11(10):2745-2755. doi: 10.1002/acn3.52189. Epub 2024 Aug 28. Ann Clin Transl Neurol. 2024. PMID: 39198997 Free PMC article.
Syndromic obesity: clinical implications of a correct diagnosis.
Milani D, Cerutti M, Pezzani L, Maffei P, Milan G, Esposito S. Milani D, et al. Among authors: pezzani l. Ital J Pediatr. 2014 Apr 2;40(1):33. doi: 10.1186/1824-7288-40-33. Ital J Pediatr. 2014. PMID: 24690487 Free PMC article.
Aortic dilation in Sotos syndrome: An underestimated feature?
Pezzani L, Mauri L, Selicorni A, Peron A, Grasso M, Codazzi AC, Rimini A, Marchisio PG, Coviello D, Colli A, Milani D. Pezzani L, et al. Am J Med Genet A. 2020 Jul;182(7):1819-1823. doi: 10.1002/ajmg.a.61591. Epub 2020 Apr 14. Am J Med Genet A. 2020. PMID: 32286744 No abstract available.
Nevoid follicular mucinosis: a new type of hair follicle nevus.
Tadini G, Boldrini MP, Brena M, Pezzani L, Marchesi L, Rongioletti F. Tadini G, et al. Among authors: pezzani l. J Cutan Pathol. 2013 Sep;40(9):844-7. doi: 10.1111/cup.12163. Epub 2013 Apr 29. J Cutan Pathol. 2013. PMID: 23621858
43 results