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Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".
Lugli L, Pollazzon M, Bigoni S, Caraffi SG, Ferlini A, Ferri L, Morrone A, Calabrese O, Iughetti L, Garavelli L, Berardi A. Lugli L, et al. Among authors: calabrese o. Am J Med Genet A. 2022 Jan;188(1):382-383. doi: 10.1002/ajmg.a.62511. Epub 2021 Sep 25. Am J Med Genet A. 2022. PMID: 34562059 No abstract available.
Townes-Brocks syndrome with craniosynostosis in two siblings.
Lugli L, Rossi C, Ceccarelli PL, Calabrese O, Bedetti L, Miselli F, Bianchini MA, Iughetti L, Berardi A. Lugli L, et al. Among authors: calabrese o. Eur J Med Genet. 2022 Dec;65(12):104642. doi: 10.1016/j.ejmg.2022.104642. Epub 2022 Oct 15. Eur J Med Genet. 2022. PMID: 36252910
Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al.
Resta N, Calabrese O, Grossi V, Lugli L, Simone C, Ranieri C, Piglionica M, Lepore Signorile M, Rossi K, Carli D, Mussa A. Resta N, et al. Among authors: calabrese o. Genet Med. 2021 Nov;23(11):2223-2224. doi: 10.1038/s41436-021-01256-0. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234302 Free article. No abstract available.
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.
Laterza D, Ritelli M, Zini A, Colombi M, Dell'Acqua ML, Vandelli L, Bigliardi G, Verganti L, Vallone S, Vincenzi C, Rosafio F, Ciolli L, Calabrese O, Nichelli PF, Picchetto L. Laterza D, et al. Among authors: calabrese o. Eur J Med Genet. 2019 Oct;62(10):103727. doi: 10.1016/j.ejmg.2019.103727. Epub 2019 Jul 18. Eur J Med Genet. 2019. PMID: 31326520
39 results