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Page 1
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Morgan AT, Scerri TS, Vogel AP, Reid CA, Quach M, Jackson VE, McKenzie C, Burrows EL, Bennett MF, Turner SJ, Reilly S, Horton SE, Block S, Kefalianos E, Frigerio-Domingues C, Sainz E, Rigbye KA, Featherby TJ, Richards KL, Kueh A, Herold MJ, Corbett MA, Gecz J, Helbig I, Thompson-Lake DGY, Liégeois FJ, Morell RJ, Hung A, Drayna D, Scheffer IE, Wright DK, Bahlo M, Hildebrand MS. Morgan AT, et al. Among authors: frigerio domingues c. Brain. 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314. Brain. 2023. PMID: 37977818 Free PMC article.
Genetic contributions to stuttering: the current evidence.
Frigerio-Domingues C, Drayna D. Frigerio-Domingues C, et al. Mol Genet Genomic Med. 2017 Feb 19;5(2):95-102. doi: 10.1002/mgg3.276. eCollection 2017 Mar. Mol Genet Genomic Med. 2017. PMID: 28361094 Free PMC article.
Are variants in sex hormone metabolizing genes associated with stuttering?
Frigerio Domingues CE, Grainger K, Cheng H, Moretti-Ferreira D, Riazuddin S, Drayna D. Frigerio Domingues CE, et al. Brain Lang. 2019 Apr;191:28-30. doi: 10.1016/j.bandl.2019.02.003. Epub 2019 Feb 22. Brain Lang. 2019. PMID: 30798091 Free PMC article. No abstract available.
An African-specific haplotype in MRGPRX4 is associated with menthol cigarette smoking.
Kozlitina J, Risso D, Lansu K, Olsen RHJ, Sainz E, Luiselli D, Barik A, Frigerio-Domingues C, Pagani L, Wooding S, Kirchner T, Niaura R, Roth B, Drayna D. Kozlitina J, et al. Among authors: frigerio domingues c. PLoS Genet. 2019 Feb 15;15(2):e1007916. doi: 10.1371/journal.pgen.1007916. eCollection 2019 Feb. PLoS Genet. 2019. PMID: 30768591 Free PMC article.
Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.
Vieira GH, Cook MM, Ferreira De Lima RL, Frigério Domingues CE, de Carvalho DR, Soares de Paiva I, Moretti-Ferreira D, Srivastava AK. Vieira GH, et al. Among authors: frigerio domingues ce. Mol Syndromol. 2015 Feb;6(1):32-8. doi: 10.1159/000370169. Epub 2015 Jan 21. Mol Syndromol. 2015. PMID: 25852445 Free PMC article.