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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 "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.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN; Care4Rare Canada Consortium; Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Whalen S, et al. Among authors: calabrese o. Eur J Hum Genet. 2021 Sep;29(9):1405-1417. doi: 10.1038/s41431-021-00821-0. Epub 2021 Feb 18. Eur J Hum Genet. 2021. PMID: 33603160 Free PMC article.
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.
38 results