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Page 1
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.
Politi C, Grillone K, Nocera D, Colao E, Bellisario ML, Loddo S, Catino G, Novelli A, Perrotti N, Rodolfo I, Malatesta P. Politi C, et al. Among authors: colao e. Genes (Basel). 2024 Jan 16;15(1):103. doi: 10.3390/genes15010103. Genes (Basel). 2024. PMID: 38254992 Free PMC article.
Kinase Inhibitors in Genetic Diseases.
D'Antona L, Amato R, Brescia C, Rocca V, Colao E, Iuliano R, Blazer-Yost BL, Perrotti N. D'Antona L, et al. Among authors: colao e. Int J Mol Sci. 2023 Mar 9;24(6):5276. doi: 10.3390/ijms24065276. Int J Mol Sci. 2023. PMID: 36982349 Free PMC article. Review.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: colao e. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
18 results