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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. 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.
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L, Miertus J, Maltese PE, Bressan S, De Antoni L, Podracká L, Piteková L, Rísová V, Mällo M, Jaakson K, Joost K, Colombo L, Bertelli M. Gatticchi L, et al. BMC Med Genet. 2020 Sep 1;21(1):173. doi: 10.1186/s12881-020-01110-1. BMC Med Genet. 2020. PMID: 32867697 Free PMC article.
A novel role for Tm7sf2 gene in regulating TNFα expression.
Bellezza I, Roberti R, Gatticchi L, Del Sordo R, Rambotti MG, Marchetti MC, Sidoni A, Minelli A. Bellezza I, et al. Among authors: gatticchi l. PLoS One. 2013 Jul 23;8(7):e68017. doi: 10.1371/journal.pone.0068017. Print 2013. PLoS One. 2013. PMID: 23935851 Free PMC article.
25 results