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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: accogli a. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.
Imperatore V, Pinto AM, Gelli E, Trevisson E, Morbidoni V, Frullanti E, Hadjistilianou T, De Francesco S, Toti P, Gusson E, Roversi G, Accogli A, Capra V, Mencarelli MA, Renieri A, Ariani F. Imperatore V, et al. Among authors: accogli a. Eur J Hum Genet. 2018 Jul;26(7):1026-1037. doi: 10.1038/s41431-017-0054-6. Epub 2018 Apr 17. Eur J Hum Genet. 2018. PMID: 29662154 Free PMC article.
Food anaphylaxis in children: Peculiarity of characteristics.
Tosca MA, Pistorio A, Accogli A, Rossi GA, Ciprandi G. Tosca MA, et al. Among authors: accogli a. Allergol Immunopathol (Madr). 2015 Jul-Aug;43(4):421-3. doi: 10.1016/j.aller.2014.04.007. Epub 2014 Aug 1. Allergol Immunopathol (Madr). 2015. PMID: 25088673 No abstract available.
Erratum to: Genetic Screening of Pediatric Cavernous Malformations.
Merello E, Pavanello M, Consales A, Mascelli S, Raso A, Accogli A, Cama A, Capra V, De Marco P. Merello E, et al. Among authors: accogli a. J Mol Neurosci. 2017 Jan;61(1):132. doi: 10.1007/s12031-016-0852-2. J Mol Neurosci. 2017. PMID: 27812772 No abstract available.
Genetic Screening of Pediatric Cavernous Malformations.
Merello E, Pavanello M, Consales A, Mascelli S, Raso A, Accogli A, Cama A, Valeria C, De Marco P. Merello E, et al. Among authors: accogli a. J Mol Neurosci. 2016 Oct;60(2):232-8. doi: 10.1007/s12031-016-0806-8. Epub 2016 Aug 25. J Mol Neurosci. 2016. PMID: 27561926
135 results